SNP Links for Protein (Select 194473684) - SNP

Links from Protein

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Select item 14907007321.

rs1490700732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19405968 (GRCh38)
8:19263479 (GRCh37)
Canonical SPDI:: NC_000008.11:19405967:C:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19405968C>T, NC_000008.10:g.19263479C>T, NM_018371.5:c.1411G>A, NM_018371.4:c.1411G>A, XM_011544585.4:c.667G>A, XM_011544585.3:c.667G>A, XM_011544585.2:c.667G>A, XM_011544585.1:c.667G>A, XM_006716360.4:c.1411G>A, XM_006716360.3:c.1411G>A, XM_006716360.2:c.1411G>A, XM_006716360.1:c.1411G>A, XM_006716364.4:c.1411G>A, XM_006716364.3:c.1411G>A, XM_006716364.2:c.1411G>A, XM_006716364.1:c.1411G>A, XM_011544578.3:c.1411G>A, XM_011544578.2:c.1411G>A, XM_011544578.1:c.1411G>A, NR_024040.3:n.2155G>A, NR_024040.2:n.2155G>A, NR_024040.1:n.2144G>A, XM_017013638.2:c.1411G>A, XM_017013638.1:c.1411G>A, NR_148902.2:n.2669G>A, NR_148902.1:n.2985G>A, NM_001354490.2:c.1411G>A, NM_001354490.1:c.1411G>A, NR_148901.2:n.2327G>A, NR_148901.1:n.2643G>A, NM_001354491.2:c.1411G>A, NM_001354491.1:c.1411G>A, XM_024447193.2:c.1411G>A, XM_024447193.1:c.1411G>A, NM_001354499.2:c.1411G>A, NM_001354499.1:c.1411G>A, NM_001354495.2:c.1411G>A, NM_001354495.1:c.1411G>A, NM_001354496.2:c.1411G>A, NM_001354496.1:c.1411G>A, NM_001354494.2:c.1411G>A, NM_001354494.1:c.1411G>A, NR_148899.2:n.2181G>A, NR_148899.1:n.2210G>A, NM_001354480.2:c.1411G>A, NM_001354480.1:c.1411G>A, XM_011544583.2:c.1411G>A, XM_011544583.1:c.1411G>A, NM_001130518.2:c.1411G>A, NM_001130518.1:c.1411G>A, NR_148898.2:n.2148G>A, NR_148898.1:n.2269G>A, NM_001354498.2:c.1411G>A, NM_001354498.1:c.1411G>A, NR_148900.2:n.2081G>A, NR_148900.1:n.2110G>A, NM_001354487.2:c.1411G>A, NM_001354487.1:c.1411G>A, NM_001354485.2:c.1411G>A, NM_001354485.1:c.1411G>A, NM_001354489.2:c.1411G>A, NM_001354489.1:c.1411G>A, NM_001354492.2:c.1411G>A, NM_001354492.1:c.1411G>A, NM_001354484.2:c.1411G>A, NM_001354484.1:c.1411G>A, NM_001354481.2:c.1411G>A, NM_001354481.1:c.1411G>A, NM_001354477.2:c.1411G>A, NM_001354477.1:c.1411G>A, NM_001354488.2:c.1411G>A, NM_001354488.1:c.1411G>A, NM_001354475.2:c.1411G>A, NM_001354475.1:c.1411G>A, XM_017013625.2:c.1411G>A, XM_017013625.1:c.1411G>A, NM_001354497.2:c.1411G>A, NM_001354497.1:c.1411G>A, NR_148897.2:n.1940G>A, NR_148897.1:n.2061G>A, XM_024447191.2:c.1411G>A, XM_024447191.1:c.1411G>A, NM_001354483.2:c.1411G>A, NM_001354483.1:c.1411G>A, XM_024447192.2:c.1411G>A, XM_024447192.1:c.1411G>A, NM_001354476.2:c.1411G>A, NM_001354476.1:c.1411G>A, XM_047421974.1:c.1411G>A, XM_047421970.1:c.1411G>A, XM_047421968.1:c.1411G>A, XM_047421979.1:c.1411G>A, XM_047421962.1:c.1411G>A, XM_047421964.1:c.1411G>A, XM_047421972.1:c.1411G>A, XM_047421969.1:c.1411G>A, XM_006716363.1:c.1411G>A, XM_047421965.1:c.1411G>A, XM_047421978.1:c.1411G>A, XM_047421976.1:c.1411G>A, XM_047421967.1:c.1411G>A, XM_047421963.1:c.1411G>A, XM_047421973.1:c.1411G>A, XM_047421960.1:c.1411G>A, XM_047421966.1:c.1411G>A, XM_047421971.1:c.1411G>A, XM_047421961.1:c.1411G>A, XM_047421975.1:c.1411G>A, XM_047421977.1:c.1411G>A, XM_024447190.1:c.1411G>A, NP_060841.5:p.Gly471Arg, XP_011542887.1:p.Gly223Arg, XP_006716423.1:p.Gly471Arg, XP_006716427.1:p.Gly471Arg, XP_011542880.1:p.Gly471Arg, XP_016869127.1:p.Gly471Arg, NP_001341419.1:p.Gly471Arg, NP_001341420.1:p.Gly471Arg, XP_024302961.1:p.Gly471Arg, NP_001341428.1:p.Gly471Arg, NP_001341424.1:p.Gly471Arg, NP_001341425.1:p.Gly471Arg, NP_001341423.1:p.Gly471Arg, NP_001341409.1:p.Gly471Arg, XP_011542885.1:p.Gly471Arg, NP_001123990.1:p.Gly471Arg, NP_001341427.1:p.Gly471Arg, NP_001341416.1:p.Gly471Arg, NP_001341414.1:p.Gly471Arg, NP_001341418.1:p.Gly471Arg, NP_001341421.1:p.Gly471Arg, NP_001341413.1:p.Gly471Arg, NP_001341410.1:p.Gly471Arg, NP_001341406.1:p.Gly471Arg, NP_001341417.1:p.Gly471Arg, NP_001341404.1:p.Gly471Arg, XP_016869114.1:p.Gly471Arg, NP_001341426.1:p.Gly471Arg, XP_024302959.1:p.Gly471Arg, NP_001341412.1:p.Gly471Arg, XP_024302960.1:p.Gly471Arg, NP_001341405.1:p.Gly471Arg, XP_047277930.1:p.Gly471Arg, XP_047277926.1:p.Gly471Arg, XP_047277924.1:p.Gly471Arg, XP_047277935.1:p.Gly471Arg, XP_047277918.1:p.Gly471Arg, XP_047277920.1:p.Gly471Arg, XP_047277928.1:p.Gly471Arg, XP_047277925.1:p.Gly471Arg, XP_006716426.1:p.Gly471Arg, XP_047277921.1:p.Gly471Arg, XP_047277934.1:p.Gly471Arg, XP_047277932.1:p.Gly471Arg, XP_047277923.1:p.Gly471Arg, XP_047277919.1:p.Gly471Arg, XP_047277929.1:p.Gly471Arg, XP_047277916.1:p.Gly471Arg, XP_047277922.1:p.Gly471Arg, XP_047277927.1:p.Gly471Arg, XP_047277917.1:p.Gly471Arg, XP_047277931.1:p.Gly471Arg, XP_047277933.1:p.Gly471Arg, XP_024302958.1:p.Gly471Arg

Select item 14846186412.

rs1484618641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:19505476 (GRCh38)
8:19362987 (GRCh37)
Canonical SPDI:: NC_000008.11:19505475:A:G,NC_000008.11:19505475:A:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19505476A>G, NC_000008.11:g.19505476A>T, NC_000008.10:g.19362987A>G, NC_000008.10:g.19362987A>T, NM_018371.5:c.359T>C, NM_018371.5:c.359T>A, NM_018371.4:c.359T>C, NM_018371.4:c.359T>A, XM_006716360.4:c.359T>C, XM_006716360.4:c.359T>A, XM_006716360.3:c.359T>C, XM_006716360.3:c.359T>A, XM_006716360.2:c.359T>C, XM_006716360.2:c.359T>A, XM_006716360.1:c.359T>C, XM_006716360.1:c.359T>A, XM_006716364.4:c.359T>C, XM_006716364.4:c.359T>A, XM_006716364.3:c.359T>C, XM_006716364.3:c.359T>A, XM_006716364.2:c.359T>C, XM_006716364.2:c.359T>A, XM_006716364.1:c.359T>C, XM_006716364.1:c.359T>A, XM_011544578.3:c.359T>C, XM_011544578.3:c.359T>A, XM_011544578.2:c.359T>C, XM_011544578.2:c.359T>A, XM_011544578.1:c.359T>C, XM_011544578.1:c.359T>A, NR_024040.3:n.816T>C, NR_024040.3:n.816T>A, NR_024040.2:n.816T>C, NR_024040.2:n.816T>A, NR_024040.1:n.805T>C, NR_024040.1:n.805T>A, XM_017013638.2:c.359T>C, XM_017013638.2:c.359T>A, XM_017013638.1:c.359T>C, XM_017013638.1:c.359T>A, NR_148902.2:n.1143T>C, NR_148902.2:n.1143T>A, NR_148902.1:n.1459T>C, NR_148902.1:n.1459T>A, NM_001354490.2:c.359T>C, NM_001354490.2:c.359T>A, NM_001354490.1:c.359T>C, NM_001354490.1:c.359T>A, NR_148901.2:n.988T>C, NR_148901.2:n.988T>A, NR_148901.1:n.1304T>C, NR_148901.1:n.1304T>A, NM_001354491.2:c.359T>C, NM_001354491.2:c.359T>A, NM_001354491.1:c.359T>C, NM_001354491.1:c.359T>A, XM_024447193.2:c.359T>C, XM_024447193.2:c.359T>A, XM_024447193.1:c.359T>C, XM_024447193.1:c.359T>A, NM_001354499.2:c.359T>C, NM_001354499.2:c.359T>A, NM_001354499.1:c.359T>C, NM_001354499.1:c.359T>A, NM_001354495.2:c.359T>C, NM_001354495.2:c.359T>A, NM_001354495.1:c.359T>C, NM_001354495.1:c.359T>A, NM_001354496.2:c.359T>C, NM_001354496.2:c.359T>A, NM_001354496.1:c.359T>C, NM_001354496.1:c.359T>A, NM_001354494.2:c.359T>C, NM_001354494.2:c.359T>A, NM_001354494.1:c.359T>C, NM_001354494.1:c.359T>A, NR_148899.2:n.842T>C, NR_148899.2:n.842T>A, NR_148899.1:n.871T>C, NR_148899.1:n.871T>A, NM_001354480.2:c.359T>C, NM_001354480.2:c.359T>A, NM_001354480.1:c.359T>C, NM_001354480.1:c.359T>A, XM_011544583.2:c.359T>C, XM_011544583.2:c.359T>A, XM_011544583.1:c.359T>C, XM_011544583.1:c.359T>A, NM_001130518.2:c.359T>C, NM_001130518.2:c.359T>A, NM_001130518.1:c.359T>C, NM_001130518.1:c.359T>A, NR_148898.2:n.809T>C, NR_148898.2:n.809T>A, NR_148898.1:n.930T>C, NR_148898.1:n.930T>A, NM_001354498.2:c.359T>C, NM_001354498.2:c.359T>A, NM_001354498.1:c.359T>C, NM_001354498.1:c.359T>A, NR_148900.2:n.842T>C, NR_148900.2:n.842T>A, NR_148900.1:n.871T>C, NR_148900.1:n.871T>A, NM_001354487.2:c.359T>C, NM_001354487.2:c.359T>A, NM_001354487.1:c.359T>C, NM_001354487.1:c.359T>A, NM_001354485.2:c.359T>C, NM_001354485.2:c.359T>A, NM_001354485.1:c.359T>C, NM_001354485.1:c.359T>A, NM_001354489.2:c.359T>C, NM_001354489.2:c.359T>A, NM_001354489.1:c.359T>C, NM_001354489.1:c.359T>A, NM_001354492.2:c.359T>C, NM_001354492.2:c.359T>A, NM_001354492.1:c.359T>C, NM_001354492.1:c.359T>A, NM_001354484.2:c.359T>C, NM_001354484.2:c.359T>A, NM_001354484.1:c.359T>C, NM_001354484.1:c.359T>A, NM_001354481.2:c.359T>C, NM_001354481.2:c.359T>A, NM_001354481.1:c.359T>C, NM_001354481.1:c.359T>A, NM_001354477.2:c.359T>C, NM_001354477.2:c.359T>A, NM_001354477.1:c.359T>C, NM_001354477.1:c.359T>A, NM_001354488.2:c.359T>C, NM_001354488.2:c.359T>A, NM_001354488.1:c.359T>C, NM_001354488.1:c.359T>A, NM_001354475.2:c.359T>C, NM_001354475.2:c.359T>A, NM_001354475.1:c.359T>C, NM_001354475.1:c.359T>A, XM_017013625.2:c.359T>C, XM_017013625.2:c.359T>A, XM_017013625.1:c.359T>C, XM_017013625.1:c.359T>A, NM_001354497.2:c.359T>C, NM_001354497.2:c.359T>A, NM_001354497.1:c.359T>C, NM_001354497.1:c.359T>A, NR_148897.2:n.809T>C, NR_148897.2:n.809T>A, NR_148897.1:n.930T>C, NR_148897.1:n.930T>A, XM_024447191.2:c.359T>C, XM_024447191.2:c.359T>A, XM_024447191.1:c.359T>C, XM_024447191.1:c.359T>A, NM_001354483.2:c.359T>C, NM_001354483.2:c.359T>A, NM_001354483.1:c.359T>C, NM_001354483.1:c.359T>A, XM_024447192.2:c.359T>C, XM_024447192.2:c.359T>A, XM_024447192.1:c.359T>C, XM_024447192.1:c.359T>A, NM_001354476.2:c.359T>C, NM_001354476.2:c.359T>A, NM_001354476.1:c.359T>C, NM_001354476.1:c.359T>A, XM_047421974.1:c.359T>C, XM_047421974.1:c.359T>A, XM_047421970.1:c.359T>C, XM_047421970.1:c.359T>A, XM_047421968.1:c.359T>C, XM_047421968.1:c.359T>A, XM_047421979.1:c.359T>C, XM_047421979.1:c.359T>A, XM_047421962.1:c.359T>C, XM_047421962.1:c.359T>A, XM_047421964.1:c.359T>C, XM_047421964.1:c.359T>A, XM_047421972.1:c.359T>C, XM_047421972.1:c.359T>A, XM_047421969.1:c.359T>C, XM_047421969.1:c.359T>A, XM_006716363.1:c.359T>C, XM_006716363.1:c.359T>A, XM_047421965.1:c.359T>C, XM_047421965.1:c.359T>A, XM_047421978.1:c.359T>C, XM_047421978.1:c.359T>A, XM_047421976.1:c.359T>C, XM_047421976.1:c.359T>A, XM_047421967.1:c.359T>C, XM_047421967.1:c.359T>A, XM_047421963.1:c.359T>C, XM_047421963.1:c.359T>A, XM_047421973.1:c.359T>C, XM_047421973.1:c.359T>A, XM_047421960.1:c.359T>C, XM_047421960.1:c.359T>A, XM_047421966.1:c.359T>C, XM_047421966.1:c.359T>A, XM_047421971.1:c.359T>C, XM_047421971.1:c.359T>A, XM_047421961.1:c.359T>C, XM_047421961.1:c.359T>A, XM_047421975.1:c.359T>C, XM_047421975.1:c.359T>A, XM_047421977.1:c.359T>C, XM_047421977.1:c.359T>A, XM_024447190.1:c.359T>C, XM_024447190.1:c.359T>A, XR_007060745.1:n.988T>C, XR_007060745.1:n.988T>A, NP_060841.5:p.Leu120Pro, NP_060841.5:p.Leu120His, XP_006716423.1:p.Leu120Pro, XP_006716423.1:p.Leu120His, XP_006716427.1:p.Leu120Pro, XP_006716427.1:p.Leu120His, XP_011542880.1:p.Leu120Pro, XP_011542880.1:p.Leu120His, XP_016869127.1:p.Leu120Pro, XP_016869127.1:p.Leu120His, NP_001341419.1:p.Leu120Pro, NP_001341419.1:p.Leu120His, NP_001341420.1:p.Leu120Pro, NP_001341420.1:p.Leu120His, XP_024302961.1:p.Leu120Pro, XP_024302961.1:p.Leu120His, NP_001341428.1:p.Leu120Pro, NP_001341428.1:p.Leu120His, NP_001341424.1:p.Leu120Pro, NP_001341424.1:p.Leu120His, NP_001341425.1:p.Leu120Pro, NP_001341425.1:p.Leu120His, NP_001341423.1:p.Leu120Pro, NP_001341423.1:p.Leu120His, NP_001341409.1:p.Leu120Pro, NP_001341409.1:p.Leu120His, XP_011542885.1:p.Leu120Pro, XP_011542885.1:p.Leu120His, NP_001123990.1:p.Leu120Pro, NP_001123990.1:p.Leu120His, NP_001341427.1:p.Leu120Pro, NP_001341427.1:p.Leu120His, NP_001341416.1:p.Leu120Pro, NP_001341416.1:p.Leu120His, NP_001341414.1:p.Leu120Pro, NP_001341414.1:p.Leu120His, NP_001341418.1:p.Leu120Pro, NP_001341418.1:p.Leu120His, NP_001341421.1:p.Leu120Pro, NP_001341421.1:p.Leu120His, NP_001341413.1:p.Leu120Pro, NP_001341413.1:p.Leu120His, NP_001341410.1:p.Leu120Pro, NP_001341410.1:p.Leu120His, NP_001341406.1:p.Leu120Pro, NP_001341406.1:p.Leu120His, NP_001341417.1:p.Leu120Pro, NP_001341417.1:p.Leu120His, NP_001341404.1:p.Leu120Pro, NP_001341404.1:p.Leu120His, XP_016869114.1:p.Leu120Pro, XP_016869114.1:p.Leu120His, NP_001341426.1:p.Leu120Pro, NP_001341426.1:p.Leu120His, XP_024302959.1:p.Leu120Pro, XP_024302959.1:p.Leu120His, NP_001341412.1:p.Leu120Pro, NP_001341412.1:p.Leu120His, XP_024302960.1:p.Leu120Pro, XP_024302960.1:p.Leu120His, NP_001341405.1:p.Leu120Pro, NP_001341405.1:p.Leu120His, XP_047277930.1:p.Leu120Pro, XP_047277930.1:p.Leu120His, XP_047277926.1:p.Leu120Pro, XP_047277926.1:p.Leu120His, XP_047277924.1:p.Leu120Pro, XP_047277924.1:p.Leu120His, XP_047277935.1:p.Leu120Pro, XP_047277935.1:p.Leu120His, XP_047277918.1:p.Leu120Pro, XP_047277918.1:p.Leu120His, XP_047277920.1:p.Leu120Pro, XP_047277920.1:p.Leu120His, XP_047277928.1:p.Leu120Pro, XP_047277928.1:p.Leu120His, XP_047277925.1:p.Leu120Pro, XP_047277925.1:p.Leu120His, XP_006716426.1:p.Leu120Pro, XP_006716426.1:p.Leu120His, XP_047277921.1:p.Leu120Pro, XP_047277921.1:p.Leu120His, XP_047277934.1:p.Leu120Pro, XP_047277934.1:p.Leu120His, XP_047277932.1:p.Leu120Pro, XP_047277932.1:p.Leu120His, XP_047277923.1:p.Leu120Pro, XP_047277923.1:p.Leu120His, XP_047277919.1:p.Leu120Pro, XP_047277919.1:p.Leu120His, XP_047277929.1:p.Leu120Pro, XP_047277929.1:p.Leu120His, XP_047277916.1:p.Leu120Pro, XP_047277916.1:p.Leu120His, XP_047277922.1:p.Leu120Pro, XP_047277922.1:p.Leu120His, XP_047277927.1:p.Leu120Pro, XP_047277927.1:p.Leu120His, XP_047277917.1:p.Leu120Pro, XP_047277917.1:p.Leu120His, XP_047277931.1:p.Leu120Pro, XP_047277931.1:p.Leu120His, XP_047277933.1:p.Leu120Pro, XP_047277933.1:p.Leu120His, XP_024302958.1:p.Leu120Pro, XP_024302958.1:p.Leu120His

Select item 14820498263.

rs1482049826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:19439901 (GRCh38)
8:19297412 (GRCh37)
Canonical SPDI:: NC_000008.11:19439900:G:A,NC_000008.11:19439900:G:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19439901G>A, NC_000008.11:g.19439901G>T, NC_000008.10:g.19297412G>A, NC_000008.10:g.19297412G>T, NM_018371.5:c.882C>T, NM_018371.5:c.882C>A, NM_018371.4:c.882C>T, NM_018371.4:c.882C>A, XM_011544585.4:c.138C>T, XM_011544585.4:c.138C>A, XM_011544585.3:c.138C>T, XM_011544585.3:c.138C>A, XM_011544585.2:c.138C>T, XM_011544585.2:c.138C>A, XM_011544585.1:c.138C>T, XM_011544585.1:c.138C>A, XM_006716360.4:c.882C>T, XM_006716360.4:c.882C>A, XM_006716360.3:c.882C>T, XM_006716360.3:c.882C>A, XM_006716360.2:c.882C>T, XM_006716360.2:c.882C>A, XM_006716360.1:c.882C>T, XM_006716360.1:c.882C>A, XM_006716364.4:c.882C>T, XM_006716364.4:c.882C>A, XM_006716364.3:c.882C>T, XM_006716364.3:c.882C>A, XM_006716364.2:c.882C>T, XM_006716364.2:c.882C>A, XM_006716364.1:c.882C>T, XM_006716364.1:c.882C>A, XM_011544578.3:c.882C>T, XM_011544578.3:c.882C>A, XM_011544578.2:c.882C>T, XM_011544578.2:c.882C>A, XM_011544578.1:c.882C>T, XM_011544578.1:c.882C>A, NR_024040.3:n.1626C>T, NR_024040.3:n.1626C>A, NR_024040.2:n.1626C>T, NR_024040.2:n.1626C>A, NR_024040.1:n.1615C>T, NR_024040.1:n.1615C>A, XM_017013638.2:c.882C>T, XM_017013638.2:c.882C>A, XM_017013638.1:c.882C>T, XM_017013638.1:c.882C>A, NR_148902.2:n.1953C>T, NR_148902.2:n.1953C>A, NR_148902.1:n.2269C>T, NR_148902.1:n.2269C>A, NM_001354490.2:c.882C>T, NM_001354490.2:c.882C>A, NM_001354490.1:c.882C>T, NM_001354490.1:c.882C>A, NR_148901.2:n.1798C>T, NR_148901.2:n.1798C>A, NR_148901.1:n.2114C>T, NR_148901.1:n.2114C>A, NM_001354491.2:c.882C>T, NM_001354491.2:c.882C>A, NM_001354491.1:c.882C>T, NM_001354491.1:c.882C>A, XM_024447193.2:c.882C>T, XM_024447193.2:c.882C>A, XM_024447193.1:c.882C>T, XM_024447193.1:c.882C>A, NM_001354499.2:c.882C>T, NM_001354499.2:c.882C>A, NM_001354499.1:c.882C>T, NM_001354499.1:c.882C>A, NM_001354495.2:c.882C>T, NM_001354495.2:c.882C>A, NM_001354495.1:c.882C>T, NM_001354495.1:c.882C>A, NM_001354496.2:c.882C>T, NM_001354496.2:c.882C>A, NM_001354496.1:c.882C>T, NM_001354496.1:c.882C>A, NM_001354494.2:c.882C>T, NM_001354494.2:c.882C>A, NM_001354494.1:c.882C>T, NM_001354494.1:c.882C>A, NR_148899.2:n.1652C>T, NR_148899.2:n.1652C>A, NR_148899.1:n.1681C>T, NR_148899.1:n.1681C>A, NM_001354480.2:c.882C>T, NM_001354480.2:c.882C>A, NM_001354480.1:c.882C>T, NM_001354480.1:c.882C>A, XM_011544583.2:c.882C>T, XM_011544583.2:c.882C>A, XM_011544583.1:c.882C>T, XM_011544583.1:c.882C>A, NM_001130518.2:c.882C>T, NM_001130518.2:c.882C>A, NM_001130518.1:c.882C>T, NM_001130518.1:c.882C>A, NR_148898.2:n.1619C>T, NR_148898.2:n.1619C>A, NR_148898.1:n.1740C>T, NR_148898.1:n.1740C>A, NM_001354498.2:c.882C>T, NM_001354498.2:c.882C>A, NM_001354498.1:c.882C>T, NM_001354498.1:c.882C>A, NR_148900.2:n.1365C>T, NR_148900.2:n.1365C>A, NR_148900.1:n.1394C>T, NR_148900.1:n.1394C>A, NM_001354487.2:c.882C>T, NM_001354487.2:c.882C>A, NM_001354487.1:c.882C>T, NM_001354487.1:c.882C>A, NM_001354485.2:c.882C>T, NM_001354485.2:c.882C>A, NM_001354485.1:c.882C>T, NM_001354485.1:c.882C>A, NM_001354489.2:c.882C>T, NM_001354489.2:c.882C>A, NM_001354489.1:c.882C>T, NM_001354489.1:c.882C>A, NM_001354492.2:c.882C>T, NM_001354492.2:c.882C>A, NM_001354492.1:c.882C>T, NM_001354492.1:c.882C>A, NM_001354484.2:c.882C>T, NM_001354484.2:c.882C>A, NM_001354484.1:c.882C>T, NM_001354484.1:c.882C>A, NM_001354481.2:c.882C>T, NM_001354481.2:c.882C>A, NM_001354481.1:c.882C>T, NM_001354481.1:c.882C>A, NM_001354477.2:c.882C>T, NM_001354477.2:c.882C>A, NM_001354477.1:c.882C>T, NM_001354477.1:c.882C>A, NM_001354488.2:c.882C>T, NM_001354488.2:c.882C>A, NM_001354488.1:c.882C>T, NM_001354488.1:c.882C>A, NM_001354475.2:c.882C>T, NM_001354475.2:c.882C>A, NM_001354475.1:c.882C>T, NM_001354475.1:c.882C>A, XM_017013625.2:c.882C>T, XM_017013625.2:c.882C>A, XM_017013625.1:c.882C>T, XM_017013625.1:c.882C>A, NM_001354497.2:c.882C>T, NM_001354497.2:c.882C>A, NM_001354497.1:c.882C>T, NM_001354497.1:c.882C>A, NR_148897.2:n.1411C>T, NR_148897.2:n.1411C>A, NR_148897.1:n.1532C>T, NR_148897.1:n.1532C>A, XM_024447191.2:c.882C>T, XM_024447191.2:c.882C>A, XM_024447191.1:c.882C>T, XM_024447191.1:c.882C>A, NM_001354483.2:c.882C>T, NM_001354483.2:c.882C>A, NM_001354483.1:c.882C>T, NM_001354483.1:c.882C>A, XM_024447192.2:c.882C>T, XM_024447192.2:c.882C>A, XM_024447192.1:c.882C>T, XM_024447192.1:c.882C>A, NM_001354476.2:c.882C>T, NM_001354476.2:c.882C>A, NM_001354476.1:c.882C>T, NM_001354476.1:c.882C>A, XM_047421974.1:c.882C>T, XM_047421974.1:c.882C>A, XM_047421970.1:c.882C>T, XM_047421970.1:c.882C>A, XM_047421968.1:c.882C>T, XM_047421968.1:c.882C>A, XM_047421979.1:c.882C>T, XM_047421979.1:c.882C>A, XM_047421962.1:c.882C>T, XM_047421962.1:c.882C>A, XM_047421964.1:c.882C>T, XM_047421964.1:c.882C>A, XM_047421972.1:c.882C>T, XM_047421972.1:c.882C>A, XM_047421969.1:c.882C>T, XM_047421969.1:c.882C>A, XM_006716363.1:c.882C>T, XM_006716363.1:c.882C>A, XM_047421965.1:c.882C>T, XM_047421965.1:c.882C>A, XM_047421978.1:c.882C>T, XM_047421978.1:c.882C>A, XM_047421976.1:c.882C>T, XM_047421976.1:c.882C>A, XM_047421967.1:c.882C>T, XM_047421967.1:c.882C>A, XM_047421963.1:c.882C>T, XM_047421963.1:c.882C>A, XM_047421973.1:c.882C>T, XM_047421973.1:c.882C>A, XM_047421960.1:c.882C>T, XM_047421960.1:c.882C>A, XM_047421966.1:c.882C>T, XM_047421966.1:c.882C>A, XM_047421971.1:c.882C>T, XM_047421971.1:c.882C>A, XM_047421961.1:c.882C>T, XM_047421961.1:c.882C>A, XM_047421975.1:c.882C>T, XM_047421975.1:c.882C>A, XM_047421977.1:c.882C>T, XM_047421977.1:c.882C>A, XM_024447190.1:c.882C>T, XM_024447190.1:c.882C>A, XR_007060745.1:n.1511C>T, XR_007060745.1:n.1511C>A

Select item 14813093154.

rs1481309315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:19505427 (GRCh38)
8:19362938 (GRCh37)
Canonical SPDI:: NC_000008.11:19505426:G:A,NC_000008.11:19505426:G:C
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19505427G>A, NC_000008.11:g.19505427G>C, NC_000008.10:g.19362938G>A, NC_000008.10:g.19362938G>C, NM_018371.5:c.408C>T, NM_018371.5:c.408C>G, NM_018371.4:c.408C>T, NM_018371.4:c.408C>G, XM_006716360.4:c.408C>T, XM_006716360.4:c.408C>G, XM_006716360.3:c.408C>T, XM_006716360.3:c.408C>G, XM_006716360.2:c.408C>T, XM_006716360.2:c.408C>G, XM_006716360.1:c.408C>T, XM_006716360.1:c.408C>G, XM_006716364.4:c.408C>T, XM_006716364.4:c.408C>G, XM_006716364.3:c.408C>T, XM_006716364.3:c.408C>G, XM_006716364.2:c.408C>T, XM_006716364.2:c.408C>G, XM_006716364.1:c.408C>T, XM_006716364.1:c.408C>G, XM_011544578.3:c.408C>T, XM_011544578.3:c.408C>G, XM_011544578.2:c.408C>T, XM_011544578.2:c.408C>G, XM_011544578.1:c.408C>T, XM_011544578.1:c.408C>G, NR_024040.3:n.865C>T, NR_024040.3:n.865C>G, NR_024040.2:n.865C>T, NR_024040.2:n.865C>G, NR_024040.1:n.854C>T, NR_024040.1:n.854C>G, XM_017013638.2:c.408C>T, XM_017013638.2:c.408C>G, XM_017013638.1:c.408C>T, XM_017013638.1:c.408C>G, NR_148902.2:n.1192C>T, NR_148902.2:n.1192C>G, NR_148902.1:n.1508C>T, NR_148902.1:n.1508C>G, NM_001354490.2:c.408C>T, NM_001354490.2:c.408C>G, NM_001354490.1:c.408C>T, NM_001354490.1:c.408C>G, NR_148901.2:n.1037C>T, NR_148901.2:n.1037C>G, NR_148901.1:n.1353C>T, NR_148901.1:n.1353C>G, NM_001354491.2:c.408C>T, NM_001354491.2:c.408C>G, NM_001354491.1:c.408C>T, NM_001354491.1:c.408C>G, XM_024447193.2:c.408C>T, XM_024447193.2:c.408C>G, XM_024447193.1:c.408C>T, XM_024447193.1:c.408C>G, NM_001354499.2:c.408C>T, NM_001354499.2:c.408C>G, NM_001354499.1:c.408C>T, NM_001354499.1:c.408C>G, NM_001354495.2:c.408C>T, NM_001354495.2:c.408C>G, NM_001354495.1:c.408C>T, NM_001354495.1:c.408C>G, NM_001354496.2:c.408C>T, NM_001354496.2:c.408C>G, NM_001354496.1:c.408C>T, NM_001354496.1:c.408C>G, NM_001354494.2:c.408C>T, NM_001354494.2:c.408C>G, NM_001354494.1:c.408C>T, NM_001354494.1:c.408C>G, NR_148899.2:n.891C>T, NR_148899.2:n.891C>G, NR_148899.1:n.920C>T, NR_148899.1:n.920C>G, NM_001354480.2:c.408C>T, NM_001354480.2:c.408C>G, NM_001354480.1:c.408C>T, NM_001354480.1:c.408C>G, XM_011544583.2:c.408C>T, XM_011544583.2:c.408C>G, XM_011544583.1:c.408C>T, XM_011544583.1:c.408C>G, NM_001130518.2:c.408C>T, NM_001130518.2:c.408C>G, NM_001130518.1:c.408C>T, NM_001130518.1:c.408C>G, NR_148898.2:n.858C>T, NR_148898.2:n.858C>G, NR_148898.1:n.979C>T, NR_148898.1:n.979C>G, NM_001354498.2:c.408C>T, NM_001354498.2:c.408C>G, NM_001354498.1:c.408C>T, NM_001354498.1:c.408C>G, NR_148900.2:n.891C>T, NR_148900.2:n.891C>G, NR_148900.1:n.920C>T, NR_148900.1:n.920C>G, NM_001354487.2:c.408C>T, NM_001354487.2:c.408C>G, NM_001354487.1:c.408C>T, NM_001354487.1:c.408C>G, NM_001354485.2:c.408C>T, NM_001354485.2:c.408C>G, NM_001354485.1:c.408C>T, NM_001354485.1:c.408C>G, NM_001354489.2:c.408C>T, NM_001354489.2:c.408C>G, NM_001354489.1:c.408C>T, NM_001354489.1:c.408C>G, NM_001354492.2:c.408C>T, NM_001354492.2:c.408C>G, NM_001354492.1:c.408C>T, NM_001354492.1:c.408C>G, NM_001354484.2:c.408C>T, NM_001354484.2:c.408C>G, NM_001354484.1:c.408C>T, NM_001354484.1:c.408C>G, NM_001354481.2:c.408C>T, NM_001354481.2:c.408C>G, NM_001354481.1:c.408C>T, NM_001354481.1:c.408C>G, NM_001354477.2:c.408C>T, NM_001354477.2:c.408C>G, NM_001354477.1:c.408C>T, NM_001354477.1:c.408C>G, NM_001354488.2:c.408C>T, NM_001354488.2:c.408C>G, NM_001354488.1:c.408C>T, NM_001354488.1:c.408C>G, NM_001354475.2:c.408C>T, NM_001354475.2:c.408C>G, NM_001354475.1:c.408C>T, NM_001354475.1:c.408C>G, XM_017013625.2:c.408C>T, XM_017013625.2:c.408C>G, XM_017013625.1:c.408C>T, XM_017013625.1:c.408C>G, NM_001354497.2:c.408C>T, NM_001354497.2:c.408C>G, NM_001354497.1:c.408C>T, NM_001354497.1:c.408C>G, NR_148897.2:n.858C>T, NR_148897.2:n.858C>G, NR_148897.1:n.979C>T, NR_148897.1:n.979C>G, XM_024447191.2:c.408C>T, XM_024447191.2:c.408C>G, XM_024447191.1:c.408C>T, XM_024447191.1:c.408C>G, NM_001354483.2:c.408C>T, NM_001354483.2:c.408C>G, NM_001354483.1:c.408C>T, NM_001354483.1:c.408C>G, XM_024447192.2:c.408C>T, XM_024447192.2:c.408C>G, XM_024447192.1:c.408C>T, XM_024447192.1:c.408C>G, NM_001354476.2:c.408C>T, NM_001354476.2:c.408C>G, NM_001354476.1:c.408C>T, NM_001354476.1:c.408C>G, XM_047421974.1:c.408C>T, XM_047421974.1:c.408C>G, XM_047421970.1:c.408C>T, XM_047421970.1:c.408C>G, XM_047421968.1:c.408C>T, XM_047421968.1:c.408C>G, XM_047421979.1:c.408C>T, XM_047421979.1:c.408C>G, XM_047421962.1:c.408C>T, XM_047421962.1:c.408C>G, XM_047421964.1:c.408C>T, XM_047421964.1:c.408C>G, XM_047421972.1:c.408C>T, XM_047421972.1:c.408C>G, XM_047421969.1:c.408C>T, XM_047421969.1:c.408C>G, XM_006716363.1:c.408C>T, XM_006716363.1:c.408C>G, XM_047421965.1:c.408C>T, XM_047421965.1:c.408C>G, XM_047421978.1:c.408C>T, XM_047421978.1:c.408C>G, XM_047421976.1:c.408C>T, XM_047421976.1:c.408C>G, XM_047421967.1:c.408C>T, XM_047421967.1:c.408C>G, XM_047421963.1:c.408C>T, XM_047421963.1:c.408C>G, XM_047421973.1:c.408C>T, XM_047421973.1:c.408C>G, XM_047421960.1:c.408C>T, XM_047421960.1:c.408C>G, XM_047421966.1:c.408C>T, XM_047421966.1:c.408C>G, XM_047421971.1:c.408C>T, XM_047421971.1:c.408C>G, XM_047421961.1:c.408C>T, XM_047421961.1:c.408C>G, XM_047421975.1:c.408C>T, XM_047421975.1:c.408C>G, XM_047421977.1:c.408C>T, XM_047421977.1:c.408C>G, XM_024447190.1:c.408C>T, XM_024447190.1:c.408C>G, XR_007060745.1:n.1037C>T, XR_007060745.1:n.1037C>G

Select item 14783201135.

rs1478320113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19505714 (GRCh38)
8:19363225 (GRCh37)
Canonical SPDI:: NC_000008.11:19505713:C:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.19505714C>T, NC_000008.10:g.19363225C>T, NM_018371.5:c.121G>A, NM_018371.4:c.121G>A, XM_006716360.4:c.121G>A, XM_006716360.3:c.121G>A, XM_006716360.2:c.121G>A, XM_006716360.1:c.121G>A, XM_006716364.4:c.121G>A, XM_006716364.3:c.121G>A, XM_006716364.2:c.121G>A, XM_006716364.1:c.121G>A, XM_011544578.3:c.121G>A, XM_011544578.2:c.121G>A, XM_011544578.1:c.121G>A, NR_024040.3:n.578G>A, NR_024040.2:n.578G>A, NR_024040.1:n.567G>A, XM_017013638.2:c.121G>A, XM_017013638.1:c.121G>A, NR_148902.2:n.905G>A, NR_148902.1:n.1221G>A, NM_001354490.2:c.121G>A, NM_001354490.1:c.121G>A, NR_148901.2:n.750G>A, NR_148901.1:n.1066G>A, NM_001354491.2:c.121G>A, NM_001354491.1:c.121G>A, XM_024447193.2:c.121G>A, XM_024447193.1:c.121G>A, NM_001354499.2:c.121G>A, NM_001354499.1:c.121G>A, NM_001354495.2:c.121G>A, NM_001354495.1:c.121G>A, NM_001354496.2:c.121G>A, NM_001354496.1:c.121G>A, NM_001354494.2:c.121G>A, NM_001354494.1:c.121G>A, NR_148899.2:n.604G>A, NR_148899.1:n.633G>A, NM_001354480.2:c.121G>A, NM_001354480.1:c.121G>A, XM_011544583.2:c.121G>A, XM_011544583.1:c.121G>A, NM_001130518.2:c.121G>A, NM_001130518.1:c.121G>A, NR_148898.2:n.571G>A, NR_148898.1:n.692G>A, NM_001354498.2:c.121G>A, NM_001354498.1:c.121G>A, NR_148900.2:n.604G>A, NR_148900.1:n.633G>A, NM_001354487.2:c.121G>A, NM_001354487.1:c.121G>A, NM_001354485.2:c.121G>A, NM_001354485.1:c.121G>A, NM_001354489.2:c.121G>A, NM_001354489.1:c.121G>A, NM_001354492.2:c.121G>A, NM_001354492.1:c.121G>A, NM_001354484.2:c.121G>A, NM_001354484.1:c.121G>A, NM_001354481.2:c.121G>A, NM_001354481.1:c.121G>A, NM_001354477.2:c.121G>A, NM_001354477.1:c.121G>A, NM_001354488.2:c.121G>A, NM_001354488.1:c.121G>A, NM_001354475.2:c.121G>A, NM_001354475.1:c.121G>A, XM_017013625.2:c.121G>A, XM_017013625.1:c.121G>A, NM_001354497.2:c.121G>A, NM_001354497.1:c.121G>A, NR_148897.2:n.571G>A, NR_148897.1:n.692G>A, XM_024447191.2:c.121G>A, XM_024447191.1:c.121G>A, NM_001354483.2:c.121G>A, NM_001354483.1:c.121G>A, XM_024447192.2:c.121G>A, XM_024447192.1:c.121G>A, NM_001354476.2:c.121G>A, NM_001354476.1:c.121G>A, XM_047421974.1:c.121G>A, XM_047421970.1:c.121G>A, XM_047421968.1:c.121G>A, XM_047421979.1:c.121G>A, XM_047421962.1:c.121G>A, XM_047421964.1:c.121G>A, XM_047421972.1:c.121G>A, XM_047421969.1:c.121G>A, XM_006716363.1:c.121G>A, XM_047421965.1:c.121G>A, XM_047421978.1:c.121G>A, XM_047421976.1:c.121G>A, XM_047421967.1:c.121G>A, XM_047421963.1:c.121G>A, XM_047421973.1:c.121G>A, XM_047421960.1:c.121G>A, XM_047421966.1:c.121G>A, XM_047421971.1:c.121G>A, XM_047421961.1:c.121G>A, XM_047421975.1:c.121G>A, XM_047421977.1:c.121G>A, XM_024447190.1:c.121G>A, XR_007060745.1:n.750G>A, NP_060841.5:p.Glu41Lys, XP_006716423.1:p.Glu41Lys, XP_006716427.1:p.Glu41Lys, XP_011542880.1:p.Glu41Lys, XP_016869127.1:p.Glu41Lys, NP_001341419.1:p.Glu41Lys, NP_001341420.1:p.Glu41Lys, XP_024302961.1:p.Glu41Lys, NP_001341428.1:p.Glu41Lys, NP_001341424.1:p.Glu41Lys, NP_001341425.1:p.Glu41Lys, NP_001341423.1:p.Glu41Lys, NP_001341409.1:p.Glu41Lys, XP_011542885.1:p.Glu41Lys, NP_001123990.1:p.Glu41Lys, NP_001341427.1:p.Glu41Lys, NP_001341416.1:p.Glu41Lys, NP_001341414.1:p.Glu41Lys, NP_001341418.1:p.Glu41Lys, NP_001341421.1:p.Glu41Lys, NP_001341413.1:p.Glu41Lys, NP_001341410.1:p.Glu41Lys, NP_001341406.1:p.Glu41Lys, NP_001341417.1:p.Glu41Lys, NP_001341404.1:p.Glu41Lys, XP_016869114.1:p.Glu41Lys, NP_001341426.1:p.Glu41Lys, XP_024302959.1:p.Glu41Lys, NP_001341412.1:p.Glu41Lys, XP_024302960.1:p.Glu41Lys, NP_001341405.1:p.Glu41Lys, XP_047277930.1:p.Glu41Lys, XP_047277926.1:p.Glu41Lys, XP_047277924.1:p.Glu41Lys, XP_047277935.1:p.Glu41Lys, XP_047277918.1:p.Glu41Lys, XP_047277920.1:p.Glu41Lys, XP_047277928.1:p.Glu41Lys, XP_047277925.1:p.Glu41Lys, XP_006716426.1:p.Glu41Lys, XP_047277921.1:p.Glu41Lys, XP_047277934.1:p.Glu41Lys, XP_047277932.1:p.Glu41Lys, XP_047277923.1:p.Glu41Lys, XP_047277919.1:p.Glu41Lys, XP_047277929.1:p.Glu41Lys, XP_047277916.1:p.Glu41Lys, XP_047277922.1:p.Glu41Lys, XP_047277927.1:p.Glu41Lys, XP_047277917.1:p.Glu41Lys, XP_047277931.1:p.Glu41Lys, XP_047277933.1:p.Glu41Lys, XP_024302958.1:p.Glu41Lys

Select item 14774886066.

rs1477488606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:19458497 (GRCh38)
8:19316008 (GRCh37)
Canonical SPDI:: NC_000008.11:19458496:G:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19458497G>T, NC_000008.10:g.19316008G>T, NM_018371.5:c.780C>A, NM_018371.4:c.780C>A, XM_011544585.4:c.36C>A, XM_011544585.3:c.36C>A, XM_011544585.2:c.36C>A, XM_011544585.1:c.36C>A, XM_006716360.4:c.780C>A, XM_006716360.3:c.780C>A, XM_006716360.2:c.780C>A, XM_006716360.1:c.780C>A, XM_006716364.4:c.780C>A, XM_006716364.3:c.780C>A, XM_006716364.2:c.780C>A, XM_006716364.1:c.780C>A, XM_011544578.3:c.780C>A, XM_011544578.2:c.780C>A, XM_011544578.1:c.780C>A, NR_024040.3:n.1237C>A, NR_024040.2:n.1237C>A, NR_024040.1:n.1226C>A, XM_017013638.2:c.780C>A, XM_017013638.1:c.780C>A, NR_148902.2:n.1564C>A, NR_148902.1:n.1880C>A, NM_001354490.2:c.780C>A, NM_001354490.1:c.780C>A, NR_148901.2:n.1409C>A, NR_148901.1:n.1725C>A, NM_001354491.2:c.780C>A, NM_001354491.1:c.780C>A, XM_024447193.2:c.780C>A, XM_024447193.1:c.780C>A, NM_001354499.2:c.780C>A, NM_001354499.1:c.780C>A, NM_001354495.2:c.780C>A, NM_001354495.1:c.780C>A, NM_001354496.2:c.780C>A, NM_001354496.1:c.780C>A, NM_001354494.2:c.780C>A, NM_001354494.1:c.780C>A, NR_148899.2:n.1263C>A, NR_148899.1:n.1292C>A, NM_001354480.2:c.780C>A, NM_001354480.1:c.780C>A, XM_011544583.2:c.780C>A, XM_011544583.1:c.780C>A, NM_001130518.2:c.780C>A, NM_001130518.1:c.780C>A, NR_148898.2:n.1230C>A, NR_148898.1:n.1351C>A, NM_001354498.2:c.780C>A, NM_001354498.1:c.780C>A, NR_148900.2:n.1263C>A, NR_148900.1:n.1292C>A, NM_001354487.2:c.780C>A, NM_001354487.1:c.780C>A, NM_001354485.2:c.780C>A, NM_001354485.1:c.780C>A, NM_001354489.2:c.780C>A, NM_001354489.1:c.780C>A, NM_001354492.2:c.780C>A, NM_001354492.1:c.780C>A, NM_001354484.2:c.780C>A, NM_001354484.1:c.780C>A, NM_001354481.2:c.780C>A, NM_001354481.1:c.780C>A, NM_001354477.2:c.780C>A, NM_001354477.1:c.780C>A, NM_001354488.2:c.780C>A, NM_001354488.1:c.780C>A, NM_001354475.2:c.780C>A, NM_001354475.1:c.780C>A, XM_017013625.2:c.780C>A, XM_017013625.1:c.780C>A, NM_001354497.2:c.780C>A, NM_001354497.1:c.780C>A, NR_148897.2:n.1309C>A, NR_148897.1:n.1430C>A, XM_024447191.2:c.780C>A, XM_024447191.1:c.780C>A, NM_001354483.2:c.780C>A, NM_001354483.1:c.780C>A, XM_024447192.2:c.780C>A, XM_024447192.1:c.780C>A, NM_001354476.2:c.780C>A, NM_001354476.1:c.780C>A, XM_047421974.1:c.780C>A, XM_047421970.1:c.780C>A, XM_047421968.1:c.780C>A, XM_047421979.1:c.780C>A, XM_047421962.1:c.780C>A, XM_047421964.1:c.780C>A, XM_047421972.1:c.780C>A, XM_047421969.1:c.780C>A, XM_006716363.1:c.780C>A, XM_047421965.1:c.780C>A, XM_047421978.1:c.780C>A, XM_047421976.1:c.780C>A, XM_047421967.1:c.780C>A, XM_047421963.1:c.780C>A, XM_047421973.1:c.780C>A, XM_047421960.1:c.780C>A, XM_047421966.1:c.780C>A, XM_047421971.1:c.780C>A, XM_047421961.1:c.780C>A, XM_047421975.1:c.780C>A, XM_047421977.1:c.780C>A, XM_024447190.1:c.780C>A, XR_007060745.1:n.1409C>A, NP_060841.5:p.Asn260Lys, XP_011542887.1:p.Asn12Lys, XP_006716423.1:p.Asn260Lys, XP_006716427.1:p.Asn260Lys, XP_011542880.1:p.Asn260Lys, XP_016869127.1:p.Asn260Lys, NP_001341419.1:p.Asn260Lys, NP_001341420.1:p.Asn260Lys, XP_024302961.1:p.Asn260Lys, NP_001341428.1:p.Asn260Lys, NP_001341424.1:p.Asn260Lys, NP_001341425.1:p.Asn260Lys, NP_001341423.1:p.Asn260Lys, NP_001341409.1:p.Asn260Lys, XP_011542885.1:p.Asn260Lys, NP_001123990.1:p.Asn260Lys, NP_001341427.1:p.Asn260Lys, NP_001341416.1:p.Asn260Lys, NP_001341414.1:p.Asn260Lys, NP_001341418.1:p.Asn260Lys, NP_001341421.1:p.Asn260Lys, NP_001341413.1:p.Asn260Lys, NP_001341410.1:p.Asn260Lys, NP_001341406.1:p.Asn260Lys, NP_001341417.1:p.Asn260Lys, NP_001341404.1:p.Asn260Lys, XP_016869114.1:p.Asn260Lys, NP_001341426.1:p.Asn260Lys, XP_024302959.1:p.Asn260Lys, NP_001341412.1:p.Asn260Lys, XP_024302960.1:p.Asn260Lys, NP_001341405.1:p.Asn260Lys, XP_047277930.1:p.Asn260Lys, XP_047277926.1:p.Asn260Lys, XP_047277924.1:p.Asn260Lys, XP_047277935.1:p.Asn260Lys, XP_047277918.1:p.Asn260Lys, XP_047277920.1:p.Asn260Lys, XP_047277928.1:p.Asn260Lys, XP_047277925.1:p.Asn260Lys, XP_006716426.1:p.Asn260Lys, XP_047277921.1:p.Asn260Lys, XP_047277934.1:p.Asn260Lys, XP_047277932.1:p.Asn260Lys, XP_047277923.1:p.Asn260Lys, XP_047277919.1:p.Asn260Lys, XP_047277929.1:p.Asn260Lys, XP_047277916.1:p.Asn260Lys, XP_047277922.1:p.Asn260Lys, XP_047277927.1:p.Asn260Lys, XP_047277917.1:p.Asn260Lys, XP_047277931.1:p.Asn260Lys, XP_047277933.1:p.Asn260Lys, XP_024302958.1:p.Asn260Lys

Select item 14756005547.

rs1475600554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:19458558 (GRCh38)
8:19316069 (GRCh37)
Canonical SPDI:: NC_000008.11:19458557:A:C
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19458558A>C, NC_000008.10:g.19316069A>C, NM_018371.5:c.719T>G, NM_018371.4:c.719T>G, XM_011544585.4:c.-26T>G, XM_011544585.3:c.-26T>G, XM_011544585.2:c.-26T>G, XM_011544585.1:c.-26T>G, XM_006716360.4:c.719T>G, XM_006716360.3:c.719T>G, XM_006716360.2:c.719T>G, XM_006716360.1:c.719T>G, XM_006716364.4:c.719T>G, XM_006716364.3:c.719T>G, XM_006716364.2:c.719T>G, XM_006716364.1:c.719T>G, XM_011544578.3:c.719T>G, XM_011544578.2:c.719T>G, XM_011544578.1:c.719T>G, NR_024040.3:n.1176T>G, NR_024040.2:n.1176T>G, NR_024040.1:n.1165T>G, XM_017013638.2:c.719T>G, XM_017013638.1:c.719T>G, NR_148902.2:n.1503T>G, NR_148902.1:n.1819T>G, NM_001354490.2:c.719T>G, NM_001354490.1:c.719T>G, NR_148901.2:n.1348T>G, NR_148901.1:n.1664T>G, NM_001354491.2:c.719T>G, NM_001354491.1:c.719T>G, XM_024447193.2:c.719T>G, XM_024447193.1:c.719T>G, NM_001354499.2:c.719T>G, NM_001354499.1:c.719T>G, NM_001354495.2:c.719T>G, NM_001354495.1:c.719T>G, NM_001354496.2:c.719T>G, NM_001354496.1:c.719T>G, NM_001354494.2:c.719T>G, NM_001354494.1:c.719T>G, NR_148899.2:n.1202T>G, NR_148899.1:n.1231T>G, NM_001354480.2:c.719T>G, NM_001354480.1:c.719T>G, XM_011544583.2:c.719T>G, XM_011544583.1:c.719T>G, NM_001130518.2:c.719T>G, NM_001130518.1:c.719T>G, NR_148898.2:n.1169T>G, NR_148898.1:n.1290T>G, NM_001354498.2:c.719T>G, NM_001354498.1:c.719T>G, NR_148900.2:n.1202T>G, NR_148900.1:n.1231T>G, NM_001354487.2:c.719T>G, NM_001354487.1:c.719T>G, NM_001354485.2:c.719T>G, NM_001354485.1:c.719T>G, NM_001354489.2:c.719T>G, NM_001354489.1:c.719T>G, NM_001354492.2:c.719T>G, NM_001354492.1:c.719T>G, NM_001354484.2:c.719T>G, NM_001354484.1:c.719T>G, NM_001354481.2:c.719T>G, NM_001354481.1:c.719T>G, NM_001354477.2:c.719T>G, NM_001354477.1:c.719T>G, NM_001354488.2:c.719T>G, NM_001354488.1:c.719T>G, NM_001354475.2:c.719T>G, NM_001354475.1:c.719T>G, XM_017013625.2:c.719T>G, XM_017013625.1:c.719T>G, NM_001354497.2:c.719T>G, NM_001354497.1:c.719T>G, NR_148897.2:n.1248T>G, NR_148897.1:n.1369T>G, XM_024447191.2:c.719T>G, XM_024447191.1:c.719T>G, NM_001354483.2:c.719T>G, NM_001354483.1:c.719T>G, XM_024447192.2:c.719T>G, XM_024447192.1:c.719T>G, NM_001354476.2:c.719T>G, NM_001354476.1:c.719T>G, XM_047421974.1:c.719T>G, XM_047421970.1:c.719T>G, XM_047421968.1:c.719T>G, XM_047421979.1:c.719T>G, XM_047421962.1:c.719T>G, XM_047421964.1:c.719T>G, XM_047421972.1:c.719T>G, XM_047421969.1:c.719T>G, XM_006716363.1:c.719T>G, XM_047421965.1:c.719T>G, XM_047421978.1:c.719T>G, XM_047421976.1:c.719T>G, XM_047421967.1:c.719T>G, XM_047421963.1:c.719T>G, XM_047421973.1:c.719T>G, XM_047421960.1:c.719T>G, XM_047421966.1:c.719T>G, XM_047421971.1:c.719T>G, XM_047421961.1:c.719T>G, XM_047421975.1:c.719T>G, XM_047421977.1:c.719T>G, XM_024447190.1:c.719T>G, XR_007060745.1:n.1348T>G, NP_060841.5:p.Ile240Ser, XP_006716423.1:p.Ile240Ser, XP_006716427.1:p.Ile240Ser, XP_011542880.1:p.Ile240Ser, XP_016869127.1:p.Ile240Ser, NP_001341419.1:p.Ile240Ser, NP_001341420.1:p.Ile240Ser, XP_024302961.1:p.Ile240Ser, NP_001341428.1:p.Ile240Ser, NP_001341424.1:p.Ile240Ser, NP_001341425.1:p.Ile240Ser, NP_001341423.1:p.Ile240Ser, NP_001341409.1:p.Ile240Ser, XP_011542885.1:p.Ile240Ser, NP_001123990.1:p.Ile240Ser, NP_001341427.1:p.Ile240Ser, NP_001341416.1:p.Ile240Ser, NP_001341414.1:p.Ile240Ser, NP_001341418.1:p.Ile240Ser, NP_001341421.1:p.Ile240Ser, NP_001341413.1:p.Ile240Ser, NP_001341410.1:p.Ile240Ser, NP_001341406.1:p.Ile240Ser, NP_001341417.1:p.Ile240Ser, NP_001341404.1:p.Ile240Ser, XP_016869114.1:p.Ile240Ser, NP_001341426.1:p.Ile240Ser, XP_024302959.1:p.Ile240Ser, NP_001341412.1:p.Ile240Ser, XP_024302960.1:p.Ile240Ser, NP_001341405.1:p.Ile240Ser, XP_047277930.1:p.Ile240Ser, XP_047277926.1:p.Ile240Ser, XP_047277924.1:p.Ile240Ser, XP_047277935.1:p.Ile240Ser, XP_047277918.1:p.Ile240Ser, XP_047277920.1:p.Ile240Ser, XP_047277928.1:p.Ile240Ser, XP_047277925.1:p.Ile240Ser, XP_006716426.1:p.Ile240Ser, XP_047277921.1:p.Ile240Ser, XP_047277934.1:p.Ile240Ser, XP_047277932.1:p.Ile240Ser, XP_047277923.1:p.Ile240Ser, XP_047277919.1:p.Ile240Ser, XP_047277929.1:p.Ile240Ser, XP_047277916.1:p.Ile240Ser, XP_047277922.1:p.Ile240Ser, XP_047277927.1:p.Ile240Ser, XP_047277917.1:p.Ile240Ser, XP_047277931.1:p.Ile240Ser, XP_047277933.1:p.Ile240Ser, XP_024302958.1:p.Ile240Ser

Select item 14755611088.

rs1475561108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:19405914 (GRCh38)
8:19263425 (GRCh37)
Canonical SPDI:: NC_000008.11:19405913:G:C,NC_000008.11:19405913:G:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19405914G>C, NC_000008.11:g.19405914G>T, NC_000008.10:g.19263425G>C, NC_000008.10:g.19263425G>T, NM_018371.5:c.1465C>G, NM_018371.5:c.1465C>A, NM_018371.4:c.1465C>G, NM_018371.4:c.1465C>A, XM_011544585.4:c.721C>G, XM_011544585.4:c.721C>A, XM_011544585.3:c.721C>G, XM_011544585.3:c.721C>A, XM_011544585.2:c.721C>G, XM_011544585.2:c.721C>A, XM_011544585.1:c.721C>G, XM_011544585.1:c.721C>A, XM_006716360.4:c.1465C>G, XM_006716360.4:c.1465C>A, XM_006716360.3:c.1465C>G, XM_006716360.3:c.1465C>A, XM_006716360.2:c.1465C>G, XM_006716360.2:c.1465C>A, XM_006716360.1:c.1465C>G, XM_006716360.1:c.1465C>A, XM_006716364.4:c.1465C>G, XM_006716364.4:c.1465C>A, XM_006716364.3:c.1465C>G, XM_006716364.3:c.1465C>A, XM_006716364.2:c.1465C>G, XM_006716364.2:c.1465C>A, XM_006716364.1:c.1465C>G, XM_006716364.1:c.1465C>A, XM_011544578.3:c.1465C>G, XM_011544578.3:c.1465C>A, XM_011544578.2:c.1465C>G, XM_011544578.2:c.1465C>A, XM_011544578.1:c.1465C>G, XM_011544578.1:c.1465C>A, NR_024040.3:n.2209C>G, NR_024040.3:n.2209C>A, NR_024040.2:n.2209C>G, NR_024040.2:n.2209C>A, NR_024040.1:n.2198C>G, NR_024040.1:n.2198C>A, XM_017013638.2:c.1465C>G, XM_017013638.2:c.1465C>A, XM_017013638.1:c.1465C>G, XM_017013638.1:c.1465C>A, NR_148902.2:n.2723C>G, NR_148902.2:n.2723C>A, NR_148902.1:n.3039C>G, NR_148902.1:n.3039C>A, NM_001354490.2:c.1465C>G, NM_001354490.2:c.1465C>A, NM_001354490.1:c.1465C>G, NM_001354490.1:c.1465C>A, NR_148901.2:n.2381C>G, NR_148901.2:n.2381C>A, NR_148901.1:n.2697C>G, NR_148901.1:n.2697C>A, NM_001354491.2:c.1465C>G, NM_001354491.2:c.1465C>A, NM_001354491.1:c.1465C>G, NM_001354491.1:c.1465C>A, XM_024447193.2:c.1465C>G, XM_024447193.2:c.1465C>A, XM_024447193.1:c.1465C>G, XM_024447193.1:c.1465C>A, NM_001354499.2:c.1465C>G, NM_001354499.2:c.1465C>A, NM_001354499.1:c.1465C>G, NM_001354499.1:c.1465C>A, NM_001354495.2:c.1465C>G, NM_001354495.2:c.1465C>A, NM_001354495.1:c.1465C>G, NM_001354495.1:c.1465C>A, NM_001354496.2:c.1465C>G, NM_001354496.2:c.1465C>A, NM_001354496.1:c.1465C>G, NM_001354496.1:c.1465C>A, NM_001354494.2:c.1465C>G, NM_001354494.2:c.1465C>A, NM_001354494.1:c.1465C>G, NM_001354494.1:c.1465C>A, NR_148899.2:n.2235C>G, NR_148899.2:n.2235C>A, NR_148899.1:n.2264C>G, NR_148899.1:n.2264C>A, NM_001354480.2:c.1465C>G, NM_001354480.2:c.1465C>A, NM_001354480.1:c.1465C>G, NM_001354480.1:c.1465C>A, XM_011544583.2:c.1465C>G, XM_011544583.2:c.1465C>A, XM_011544583.1:c.1465C>G, XM_011544583.1:c.1465C>A, NM_001130518.2:c.1465C>G, NM_001130518.2:c.1465C>A, NM_001130518.1:c.1465C>G, NM_001130518.1:c.1465C>A, NR_148898.2:n.2202C>G, NR_148898.2:n.2202C>A, NR_148898.1:n.2323C>G, NR_148898.1:n.2323C>A, NM_001354498.2:c.1465C>G, NM_001354498.2:c.1465C>A, NM_001354498.1:c.1465C>G, NM_001354498.1:c.1465C>A, NR_148900.2:n.2135C>G, NR_148900.2:n.2135C>A, NR_148900.1:n.2164C>G, NR_148900.1:n.2164C>A, NM_001354487.2:c.1465C>G, NM_001354487.2:c.1465C>A, NM_001354487.1:c.1465C>G, NM_001354487.1:c.1465C>A, NM_001354485.2:c.1465C>G, NM_001354485.2:c.1465C>A, NM_001354485.1:c.1465C>G, NM_001354485.1:c.1465C>A, NM_001354489.2:c.1465C>G, NM_001354489.2:c.1465C>A, NM_001354489.1:c.1465C>G, NM_001354489.1:c.1465C>A, NM_001354492.2:c.1465C>G, NM_001354492.2:c.1465C>A, NM_001354492.1:c.1465C>G, NM_001354492.1:c.1465C>A, NM_001354484.2:c.1465C>G, NM_001354484.2:c.1465C>A, NM_001354484.1:c.1465C>G, NM_001354484.1:c.1465C>A, NM_001354481.2:c.1465C>G, NM_001354481.2:c.1465C>A, NM_001354481.1:c.1465C>G, NM_001354481.1:c.1465C>A, NM_001354477.2:c.1465C>G, NM_001354477.2:c.1465C>A, NM_001354477.1:c.1465C>G, NM_001354477.1:c.1465C>A, NM_001354488.2:c.1465C>G, NM_001354488.2:c.1465C>A, NM_001354488.1:c.1465C>G, NM_001354488.1:c.1465C>A, NM_001354475.2:c.1465C>G, NM_001354475.2:c.1465C>A, NM_001354475.1:c.1465C>G, NM_001354475.1:c.1465C>A, XM_017013625.2:c.1465C>G, XM_017013625.2:c.1465C>A, XM_017013625.1:c.1465C>G, XM_017013625.1:c.1465C>A, NM_001354497.2:c.1465C>G, NM_001354497.2:c.1465C>A, NM_001354497.1:c.1465C>G, NM_001354497.1:c.1465C>A, NR_148897.2:n.1994C>G, NR_148897.2:n.1994C>A, NR_148897.1:n.2115C>G, NR_148897.1:n.2115C>A, XM_024447191.2:c.1465C>G, XM_024447191.2:c.1465C>A, XM_024447191.1:c.1465C>G, XM_024447191.1:c.1465C>A, NM_001354483.2:c.1465C>G, NM_001354483.2:c.1465C>A, NM_001354483.1:c.1465C>G, NM_001354483.1:c.1465C>A, XM_024447192.2:c.1465C>G, XM_024447192.2:c.1465C>A, XM_024447192.1:c.1465C>G, XM_024447192.1:c.1465C>A, NM_001354476.2:c.1465C>G, NM_001354476.2:c.1465C>A, NM_001354476.1:c.1465C>G, NM_001354476.1:c.1465C>A, XM_047421974.1:c.1465C>G, XM_047421974.1:c.1465C>A, XM_047421970.1:c.1465C>G, XM_047421970.1:c.1465C>A, XM_047421968.1:c.1465C>G, XM_047421968.1:c.1465C>A, XM_047421979.1:c.1465C>G, XM_047421979.1:c.1465C>A, XM_047421962.1:c.1465C>G, XM_047421962.1:c.1465C>A, XM_047421964.1:c.1465C>G, XM_047421964.1:c.1465C>A, XM_047421972.1:c.1465C>G, XM_047421972.1:c.1465C>A, XM_047421969.1:c.1465C>G, XM_047421969.1:c.1465C>A, XM_006716363.1:c.1465C>G, XM_006716363.1:c.1465C>A, XM_047421965.1:c.1465C>G, XM_047421965.1:c.1465C>A, XM_047421978.1:c.1465C>G, XM_047421978.1:c.1465C>A, XM_047421976.1:c.1465C>G, XM_047421976.1:c.1465C>A, XM_047421967.1:c.1465C>G, XM_047421967.1:c.1465C>A, XM_047421963.1:c.1465C>G, XM_047421963.1:c.1465C>A, XM_047421973.1:c.1465C>G, XM_047421973.1:c.1465C>A, XM_047421960.1:c.1465C>G, XM_047421960.1:c.1465C>A, XM_047421966.1:c.1465C>G, XM_047421966.1:c.1465C>A, XM_047421971.1:c.1465C>G, XM_047421971.1:c.1465C>A, XM_047421961.1:c.1465C>G, XM_047421961.1:c.1465C>A, XM_047421975.1:c.1465C>G, XM_047421975.1:c.1465C>A, XM_047421977.1:c.1465C>G, XM_047421977.1:c.1465C>A, XM_024447190.1:c.1465C>G, XM_024447190.1:c.1465C>A, NP_060841.5:p.Gln489Glu, NP_060841.5:p.Gln489Lys, XP_011542887.1:p.Gln241Glu, XP_011542887.1:p.Gln241Lys, XP_006716423.1:p.Gln489Glu, XP_006716423.1:p.Gln489Lys, XP_006716427.1:p.Gln489Glu, XP_006716427.1:p.Gln489Lys, XP_011542880.1:p.Gln489Glu, XP_011542880.1:p.Gln489Lys, XP_016869127.1:p.Gln489Glu, XP_016869127.1:p.Gln489Lys, NP_001341419.1:p.Gln489Glu, NP_001341419.1:p.Gln489Lys, NP_001341420.1:p.Gln489Glu, NP_001341420.1:p.Gln489Lys, XP_024302961.1:p.Gln489Glu, XP_024302961.1:p.Gln489Lys, NP_001341428.1:p.Gln489Glu, NP_001341428.1:p.Gln489Lys, NP_001341424.1:p.Gln489Glu, NP_001341424.1:p.Gln489Lys, NP_001341425.1:p.Gln489Glu, NP_001341425.1:p.Gln489Lys, NP_001341423.1:p.Gln489Glu, NP_001341423.1:p.Gln489Lys, NP_001341409.1:p.Gln489Glu, NP_001341409.1:p.Gln489Lys, XP_011542885.1:p.Gln489Glu, XP_011542885.1:p.Gln489Lys, NP_001123990.1:p.Gln489Glu, NP_001123990.1:p.Gln489Lys, NP_001341427.1:p.Gln489Glu, NP_001341427.1:p.Gln489Lys, NP_001341416.1:p.Gln489Glu, NP_001341416.1:p.Gln489Lys, NP_001341414.1:p.Gln489Glu, NP_001341414.1:p.Gln489Lys, NP_001341418.1:p.Gln489Glu, NP_001341418.1:p.Gln489Lys, NP_001341421.1:p.Gln489Glu, NP_001341421.1:p.Gln489Lys, NP_001341413.1:p.Gln489Glu, NP_001341413.1:p.Gln489Lys, NP_001341410.1:p.Gln489Glu, NP_001341410.1:p.Gln489Lys, NP_001341406.1:p.Gln489Glu, NP_001341406.1:p.Gln489Lys, NP_001341417.1:p.Gln489Glu, NP_001341417.1:p.Gln489Lys, NP_001341404.1:p.Gln489Glu, NP_001341404.1:p.Gln489Lys, XP_016869114.1:p.Gln489Glu, XP_016869114.1:p.Gln489Lys, NP_001341426.1:p.Gln489Glu, NP_001341426.1:p.Gln489Lys, XP_024302959.1:p.Gln489Glu, XP_024302959.1:p.Gln489Lys, NP_001341412.1:p.Gln489Glu, NP_001341412.1:p.Gln489Lys, XP_024302960.1:p.Gln489Glu, XP_024302960.1:p.Gln489Lys, NP_001341405.1:p.Gln489Glu, NP_001341405.1:p.Gln489Lys, XP_047277930.1:p.Gln489Glu, XP_047277930.1:p.Gln489Lys, XP_047277926.1:p.Gln489Glu, XP_047277926.1:p.Gln489Lys, XP_047277924.1:p.Gln489Glu, XP_047277924.1:p.Gln489Lys, XP_047277935.1:p.Gln489Glu, XP_047277935.1:p.Gln489Lys, XP_047277918.1:p.Gln489Glu, XP_047277918.1:p.Gln489Lys, XP_047277920.1:p.Gln489Glu, XP_047277920.1:p.Gln489Lys, XP_047277928.1:p.Gln489Glu, XP_047277928.1:p.Gln489Lys, XP_047277925.1:p.Gln489Glu, XP_047277925.1:p.Gln489Lys, XP_006716426.1:p.Gln489Glu, XP_006716426.1:p.Gln489Lys, XP_047277921.1:p.Gln489Glu, XP_047277921.1:p.Gln489Lys, XP_047277934.1:p.Gln489Glu, XP_047277934.1:p.Gln489Lys, XP_047277932.1:p.Gln489Glu, XP_047277932.1:p.Gln489Lys, XP_047277923.1:p.Gln489Glu, XP_047277923.1:p.Gln489Lys, XP_047277919.1:p.Gln489Glu, XP_047277919.1:p.Gln489Lys, XP_047277929.1:p.Gln489Glu, XP_047277929.1:p.Gln489Lys, XP_047277916.1:p.Gln489Glu, XP_047277916.1:p.Gln489Lys, XP_047277922.1:p.Gln489Glu, XP_047277922.1:p.Gln489Lys, XP_047277927.1:p.Gln489Glu, XP_047277927.1:p.Gln489Lys, XP_047277917.1:p.Gln489Glu, XP_047277917.1:p.Gln489Lys, XP_047277931.1:p.Gln489Glu, XP_047277931.1:p.Gln489Lys, XP_047277933.1:p.Gln489Glu, XP_047277933.1:p.Gln489Lys, XP_024302958.1:p.Gln489Glu, XP_024302958.1:p.Gln489Lys

Select item 14731869339.

rs1473186933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19420445 (GRCh38)
8:19277956 (GRCh37)
Canonical SPDI:: NC_000008.11:19420444:C:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19420445C>T, NC_000008.10:g.19277956C>T, NM_018371.5:c.1027G>A, NM_018371.4:c.1027G>A, XM_011544585.4:c.283G>A, XM_011544585.3:c.283G>A, XM_011544585.2:c.283G>A, XM_011544585.1:c.283G>A, XM_006716360.4:c.1027G>A, XM_006716360.3:c.1027G>A, XM_006716360.2:c.1027G>A, XM_006716360.1:c.1027G>A, XM_006716364.4:c.1027G>A, XM_006716364.3:c.1027G>A, XM_006716364.2:c.1027G>A, XM_006716364.1:c.1027G>A, XM_011544578.3:c.1027G>A, XM_011544578.2:c.1027G>A, XM_011544578.1:c.1027G>A, NR_024040.3:n.1771G>A, NR_024040.2:n.1771G>A, NR_024040.1:n.1760G>A, XM_017013638.2:c.1027G>A, XM_017013638.1:c.1027G>A, NR_148902.2:n.2098G>A, NR_148902.1:n.2414G>A, NM_001354490.2:c.1027G>A, NM_001354490.1:c.1027G>A, NR_148901.2:n.1943G>A, NR_148901.1:n.2259G>A, NM_001354491.2:c.1027G>A, NM_001354491.1:c.1027G>A, XM_024447193.2:c.1027G>A, XM_024447193.1:c.1027G>A, NM_001354499.2:c.1027G>A, NM_001354499.1:c.1027G>A, NM_001354495.2:c.1027G>A, NM_001354495.1:c.1027G>A, NM_001354496.2:c.1027G>A, NM_001354496.1:c.1027G>A, NM_001354494.2:c.1027G>A, NM_001354494.1:c.1027G>A, NR_148899.2:n.1797G>A, NR_148899.1:n.1826G>A, NM_001354480.2:c.1027G>A, NM_001354480.1:c.1027G>A, XM_011544583.2:c.1027G>A, XM_011544583.1:c.1027G>A, NM_001130518.2:c.1027G>A, NM_001130518.1:c.1027G>A, NR_148898.2:n.1764G>A, NR_148898.1:n.1885G>A, NM_001354498.2:c.1027G>A, NM_001354498.1:c.1027G>A, NR_148900.2:n.1510G>A, NR_148900.1:n.1539G>A, NM_001354487.2:c.1027G>A, NM_001354487.1:c.1027G>A, NM_001354485.2:c.1027G>A, NM_001354485.1:c.1027G>A, NM_001354489.2:c.1027G>A, NM_001354489.1:c.1027G>A, NM_001354492.2:c.1027G>A, NM_001354492.1:c.1027G>A, NM_001354484.2:c.1027G>A, NM_001354484.1:c.1027G>A, NM_001354481.2:c.1027G>A, NM_001354481.1:c.1027G>A, NM_001354477.2:c.1027G>A, NM_001354477.1:c.1027G>A, NM_001354488.2:c.1027G>A, NM_001354488.1:c.1027G>A, NM_001354475.2:c.1027G>A, NM_001354475.1:c.1027G>A, XM_017013625.2:c.1027G>A, XM_017013625.1:c.1027G>A, NM_001354497.2:c.1027G>A, NM_001354497.1:c.1027G>A, NR_148897.2:n.1556G>A, NR_148897.1:n.1677G>A, XM_024447191.2:c.1027G>A, XM_024447191.1:c.1027G>A, NM_001354483.2:c.1027G>A, NM_001354483.1:c.1027G>A, XM_024447192.2:c.1027G>A, XM_024447192.1:c.1027G>A, NM_001354476.2:c.1027G>A, NM_001354476.1:c.1027G>A, XM_047421974.1:c.1027G>A, XM_047421970.1:c.1027G>A, XM_047421968.1:c.1027G>A, XM_047421979.1:c.1027G>A, XM_047421962.1:c.1027G>A, XM_047421964.1:c.1027G>A, XM_047421972.1:c.1027G>A, XM_047421969.1:c.1027G>A, XM_006716363.1:c.1027G>A, XM_047421965.1:c.1027G>A, XM_047421978.1:c.1027G>A, XM_047421976.1:c.1027G>A, XM_047421967.1:c.1027G>A, XM_047421963.1:c.1027G>A, XM_047421973.1:c.1027G>A, XM_047421960.1:c.1027G>A, XM_047421966.1:c.1027G>A, XM_047421971.1:c.1027G>A, XM_047421961.1:c.1027G>A, XM_047421975.1:c.1027G>A, XM_047421977.1:c.1027G>A, XM_024447190.1:c.1027G>A, XR_007060745.1:n.1656G>A, NP_060841.5:p.Gly343Arg, XP_011542887.1:p.Gly95Arg, XP_006716423.1:p.Gly343Arg, XP_006716427.1:p.Gly343Arg, XP_011542880.1:p.Gly343Arg, XP_016869127.1:p.Gly343Arg, NP_001341419.1:p.Gly343Arg, NP_001341420.1:p.Gly343Arg, XP_024302961.1:p.Gly343Arg, NP_001341428.1:p.Gly343Arg, NP_001341424.1:p.Gly343Arg, NP_001341425.1:p.Gly343Arg, NP_001341423.1:p.Gly343Arg, NP_001341409.1:p.Gly343Arg, XP_011542885.1:p.Gly343Arg, NP_001123990.1:p.Gly343Arg, NP_001341427.1:p.Gly343Arg, NP_001341416.1:p.Gly343Arg, NP_001341414.1:p.Gly343Arg, NP_001341418.1:p.Gly343Arg, NP_001341421.1:p.Gly343Arg, NP_001341413.1:p.Gly343Arg, NP_001341410.1:p.Gly343Arg, NP_001341406.1:p.Gly343Arg, NP_001341417.1:p.Gly343Arg, NP_001341404.1:p.Gly343Arg, XP_016869114.1:p.Gly343Arg, NP_001341426.1:p.Gly343Arg, XP_024302959.1:p.Gly343Arg, NP_001341412.1:p.Gly343Arg, XP_024302960.1:p.Gly343Arg, NP_001341405.1:p.Gly343Arg, XP_047277930.1:p.Gly343Arg, XP_047277926.1:p.Gly343Arg, XP_047277924.1:p.Gly343Arg, XP_047277935.1:p.Gly343Arg, XP_047277918.1:p.Gly343Arg, XP_047277920.1:p.Gly343Arg, XP_047277928.1:p.Gly343Arg, XP_047277925.1:p.Gly343Arg, XP_006716426.1:p.Gly343Arg, XP_047277921.1:p.Gly343Arg, XP_047277934.1:p.Gly343Arg, XP_047277932.1:p.Gly343Arg, XP_047277923.1:p.Gly343Arg, XP_047277919.1:p.Gly343Arg, XP_047277929.1:p.Gly343Arg, XP_047277916.1:p.Gly343Arg, XP_047277922.1:p.Gly343Arg, XP_047277927.1:p.Gly343Arg, XP_047277917.1:p.Gly343Arg, XP_047277931.1:p.Gly343Arg, XP_047277933.1:p.Gly343Arg, XP_024302958.1:p.Gly343Arg

Select item 147314913810.

rs1473149138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19458477 (GRCh38)
8:19315988 (GRCh37)
Canonical SPDI:: NC_000008.11:19458476:A:G
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19458477A>G, NC_000008.10:g.19315988A>G, NM_018371.5:c.800T>C, NM_018371.4:c.800T>C, XM_011544585.4:c.56T>C, XM_011544585.3:c.56T>C, XM_011544585.2:c.56T>C, XM_011544585.1:c.56T>C, XM_006716360.4:c.800T>C, XM_006716360.3:c.800T>C, XM_006716360.2:c.800T>C, XM_006716360.1:c.800T>C, XM_006716364.4:c.800T>C, XM_006716364.3:c.800T>C, XM_006716364.2:c.800T>C, XM_006716364.1:c.800T>C, XM_011544578.3:c.800T>C, XM_011544578.2:c.800T>C, XM_011544578.1:c.800T>C, NR_024040.3:n.1257T>C, NR_024040.2:n.1257T>C, NR_024040.1:n.1246T>C, XM_017013638.2:c.800T>C, XM_017013638.1:c.800T>C, NR_148902.2:n.1584T>C, NR_148902.1:n.1900T>C, NM_001354490.2:c.800T>C, NM_001354490.1:c.800T>C, NR_148901.2:n.1429T>C, NR_148901.1:n.1745T>C, NM_001354491.2:c.800T>C, NM_001354491.1:c.800T>C, XM_024447193.2:c.800T>C, XM_024447193.1:c.800T>C, NM_001354499.2:c.800T>C, NM_001354499.1:c.800T>C, NM_001354495.2:c.800T>C, NM_001354495.1:c.800T>C, NM_001354496.2:c.800T>C, NM_001354496.1:c.800T>C, NM_001354494.2:c.800T>C, NM_001354494.1:c.800T>C, NR_148899.2:n.1283T>C, NR_148899.1:n.1312T>C, NM_001354480.2:c.800T>C, NM_001354480.1:c.800T>C, XM_011544583.2:c.800T>C, XM_011544583.1:c.800T>C, NM_001130518.2:c.800T>C, NM_001130518.1:c.800T>C, NR_148898.2:n.1250T>C, NR_148898.1:n.1371T>C, NM_001354498.2:c.800T>C, NM_001354498.1:c.800T>C, NR_148900.2:n.1283T>C, NR_148900.1:n.1312T>C, NM_001354487.2:c.800T>C, NM_001354487.1:c.800T>C, NM_001354485.2:c.800T>C, NM_001354485.1:c.800T>C, NM_001354489.2:c.800T>C, NM_001354489.1:c.800T>C, NM_001354492.2:c.800T>C, NM_001354492.1:c.800T>C, NM_001354484.2:c.800T>C, NM_001354484.1:c.800T>C, NM_001354481.2:c.800T>C, NM_001354481.1:c.800T>C, NM_001354477.2:c.800T>C, NM_001354477.1:c.800T>C, NM_001354488.2:c.800T>C, NM_001354488.1:c.800T>C, NM_001354475.2:c.800T>C, NM_001354475.1:c.800T>C, XM_017013625.2:c.800T>C, XM_017013625.1:c.800T>C, NM_001354497.2:c.800T>C, NM_001354497.1:c.800T>C, NR_148897.2:n.1329T>C, NR_148897.1:n.1450T>C, XM_024447191.2:c.800T>C, XM_024447191.1:c.800T>C, NM_001354483.2:c.800T>C, NM_001354483.1:c.800T>C, XM_024447192.2:c.800T>C, XM_024447192.1:c.800T>C, NM_001354476.2:c.800T>C, NM_001354476.1:c.800T>C, XM_047421974.1:c.800T>C, XM_047421970.1:c.800T>C, XM_047421968.1:c.800T>C, XM_047421979.1:c.800T>C, XM_047421962.1:c.800T>C, XM_047421964.1:c.800T>C, XM_047421972.1:c.800T>C, XM_047421969.1:c.800T>C, XM_006716363.1:c.800T>C, XM_047421965.1:c.800T>C, XM_047421978.1:c.800T>C, XM_047421976.1:c.800T>C, XM_047421967.1:c.800T>C, XM_047421963.1:c.800T>C, XM_047421973.1:c.800T>C, XM_047421960.1:c.800T>C, XM_047421966.1:c.800T>C, XM_047421971.1:c.800T>C, XM_047421961.1:c.800T>C, XM_047421975.1:c.800T>C, XM_047421977.1:c.800T>C, XM_024447190.1:c.800T>C, XR_007060745.1:n.1429T>C, NP_060841.5:p.Val267Ala, XP_011542887.1:p.Val19Ala, XP_006716423.1:p.Val267Ala, XP_006716427.1:p.Val267Ala, XP_011542880.1:p.Val267Ala, XP_016869127.1:p.Val267Ala, NP_001341419.1:p.Val267Ala, NP_001341420.1:p.Val267Ala, XP_024302961.1:p.Val267Ala, NP_001341428.1:p.Val267Ala, NP_001341424.1:p.Val267Ala, NP_001341425.1:p.Val267Ala, NP_001341423.1:p.Val267Ala, NP_001341409.1:p.Val267Ala, XP_011542885.1:p.Val267Ala, NP_001123990.1:p.Val267Ala, NP_001341427.1:p.Val267Ala, NP_001341416.1:p.Val267Ala, NP_001341414.1:p.Val267Ala, NP_001341418.1:p.Val267Ala, NP_001341421.1:p.Val267Ala, NP_001341413.1:p.Val267Ala, NP_001341410.1:p.Val267Ala, NP_001341406.1:p.Val267Ala, NP_001341417.1:p.Val267Ala, NP_001341404.1:p.Val267Ala, XP_016869114.1:p.Val267Ala, NP_001341426.1:p.Val267Ala, XP_024302959.1:p.Val267Ala, NP_001341412.1:p.Val267Ala, XP_024302960.1:p.Val267Ala, NP_001341405.1:p.Val267Ala, XP_047277930.1:p.Val267Ala, XP_047277926.1:p.Val267Ala, XP_047277924.1:p.Val267Ala, XP_047277935.1:p.Val267Ala, XP_047277918.1:p.Val267Ala, XP_047277920.1:p.Val267Ala, XP_047277928.1:p.Val267Ala, XP_047277925.1:p.Val267Ala, XP_006716426.1:p.Val267Ala, XP_047277921.1:p.Val267Ala, XP_047277934.1:p.Val267Ala, XP_047277932.1:p.Val267Ala, XP_047277923.1:p.Val267Ala, XP_047277919.1:p.Val267Ala, XP_047277929.1:p.Val267Ala, XP_047277916.1:p.Val267Ala, XP_047277922.1:p.Val267Ala, XP_047277927.1:p.Val267Ala, XP_047277917.1:p.Val267Ala, XP_047277931.1:p.Val267Ala, XP_047277933.1:p.Val267Ala, XP_024302958.1:p.Val267Ala

Select item 147260955911.

rs1472609559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19505785 (GRCh38)
8:19363296 (GRCh37)
Canonical SPDI:: NC_000008.11:19505784:A:G
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.19505785A>G, NC_000008.10:g.19363296A>G, NM_018371.5:c.50T>C, NM_018371.4:c.50T>C, XM_006716360.4:c.50T>C, XM_006716360.3:c.50T>C, XM_006716360.2:c.50T>C, XM_006716360.1:c.50T>C, XM_006716364.4:c.50T>C, XM_006716364.3:c.50T>C, XM_006716364.2:c.50T>C, XM_006716364.1:c.50T>C, XM_011544578.3:c.50T>C, XM_011544578.2:c.50T>C, XM_011544578.1:c.50T>C, NR_024040.3:n.507T>C, NR_024040.2:n.507T>C, NR_024040.1:n.496T>C, XM_017013638.2:c.50T>C, XM_017013638.1:c.50T>C, NR_148902.2:n.834T>C, NR_148902.1:n.1150T>C, NM_001354490.2:c.50T>C, NM_001354490.1:c.50T>C, NR_148901.2:n.679T>C, NR_148901.1:n.995T>C, NM_001354491.2:c.50T>C, NM_001354491.1:c.50T>C, XM_024447193.2:c.50T>C, XM_024447193.1:c.50T>C, NM_001354499.2:c.50T>C, NM_001354499.1:c.50T>C, NM_001354495.2:c.50T>C, NM_001354495.1:c.50T>C, NM_001354496.2:c.50T>C, NM_001354496.1:c.50T>C, NM_001354494.2:c.50T>C, NM_001354494.1:c.50T>C, NR_148899.2:n.533T>C, NR_148899.1:n.562T>C, NM_001354480.2:c.50T>C, NM_001354480.1:c.50T>C, XM_011544583.2:c.50T>C, XM_011544583.1:c.50T>C, NM_001130518.2:c.50T>C, NM_001130518.1:c.50T>C, NR_148898.2:n.500T>C, NR_148898.1:n.621T>C, NM_001354498.2:c.50T>C, NM_001354498.1:c.50T>C, NR_148900.2:n.533T>C, NR_148900.1:n.562T>C, NM_001354487.2:c.50T>C, NM_001354487.1:c.50T>C, NM_001354485.2:c.50T>C, NM_001354485.1:c.50T>C, NM_001354489.2:c.50T>C, NM_001354489.1:c.50T>C, NM_001354492.2:c.50T>C, NM_001354492.1:c.50T>C, NM_001354484.2:c.50T>C, NM_001354484.1:c.50T>C, NM_001354481.2:c.50T>C, NM_001354481.1:c.50T>C, NM_001354477.2:c.50T>C, NM_001354477.1:c.50T>C, NM_001354488.2:c.50T>C, NM_001354488.1:c.50T>C, NM_001354475.2:c.50T>C, NM_001354475.1:c.50T>C, XM_017013625.2:c.50T>C, XM_017013625.1:c.50T>C, NM_001354497.2:c.50T>C, NM_001354497.1:c.50T>C, NR_148897.2:n.500T>C, NR_148897.1:n.621T>C, XM_024447191.2:c.50T>C, XM_024447191.1:c.50T>C, NM_001354483.2:c.50T>C, NM_001354483.1:c.50T>C, XM_024447192.2:c.50T>C, XM_024447192.1:c.50T>C, NM_001354476.2:c.50T>C, NM_001354476.1:c.50T>C, XM_047421974.1:c.50T>C, XM_047421970.1:c.50T>C, XM_047421968.1:c.50T>C, XM_047421979.1:c.50T>C, XM_047421962.1:c.50T>C, XM_047421964.1:c.50T>C, XM_047421972.1:c.50T>C, XM_047421969.1:c.50T>C, XM_006716363.1:c.50T>C, XM_047421965.1:c.50T>C, XM_047421978.1:c.50T>C, XM_047421976.1:c.50T>C, XM_047421967.1:c.50T>C, XM_047421963.1:c.50T>C, XM_047421973.1:c.50T>C, XM_047421960.1:c.50T>C, XM_047421966.1:c.50T>C, XM_047421971.1:c.50T>C, XM_047421961.1:c.50T>C, XM_047421975.1:c.50T>C, XM_047421977.1:c.50T>C, XM_024447190.1:c.50T>C, XR_007060745.1:n.679T>C, NP_060841.5:p.Val17Ala, XP_006716423.1:p.Val17Ala, XP_006716427.1:p.Val17Ala, XP_011542880.1:p.Val17Ala, XP_016869127.1:p.Val17Ala, NP_001341419.1:p.Val17Ala, NP_001341420.1:p.Val17Ala, XP_024302961.1:p.Val17Ala, NP_001341428.1:p.Val17Ala, NP_001341424.1:p.Val17Ala, NP_001341425.1:p.Val17Ala, NP_001341423.1:p.Val17Ala, NP_001341409.1:p.Val17Ala, XP_011542885.1:p.Val17Ala, NP_001123990.1:p.Val17Ala, NP_001341427.1:p.Val17Ala, NP_001341416.1:p.Val17Ala, NP_001341414.1:p.Val17Ala, NP_001341418.1:p.Val17Ala, NP_001341421.1:p.Val17Ala, NP_001341413.1:p.Val17Ala, NP_001341410.1:p.Val17Ala, NP_001341406.1:p.Val17Ala, NP_001341417.1:p.Val17Ala, NP_001341404.1:p.Val17Ala, XP_016869114.1:p.Val17Ala, NP_001341426.1:p.Val17Ala, XP_024302959.1:p.Val17Ala, NP_001341412.1:p.Val17Ala, XP_024302960.1:p.Val17Ala, NP_001341405.1:p.Val17Ala, XP_047277930.1:p.Val17Ala, XP_047277926.1:p.Val17Ala, XP_047277924.1:p.Val17Ala, XP_047277935.1:p.Val17Ala, XP_047277918.1:p.Val17Ala, XP_047277920.1:p.Val17Ala, XP_047277928.1:p.Val17Ala, XP_047277925.1:p.Val17Ala, XP_006716426.1:p.Val17Ala, XP_047277921.1:p.Val17Ala, XP_047277934.1:p.Val17Ala, XP_047277932.1:p.Val17Ala, XP_047277923.1:p.Val17Ala, XP_047277919.1:p.Val17Ala, XP_047277929.1:p.Val17Ala, XP_047277916.1:p.Val17Ala, XP_047277922.1:p.Val17Ala, XP_047277927.1:p.Val17Ala, XP_047277917.1:p.Val17Ala, XP_047277931.1:p.Val17Ala, XP_047277933.1:p.Val17Ala, XP_024302958.1:p.Val17Ala

Select item 147103022012.

rs1471030220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:19505787 (GRCh38)
8:19363298 (GRCh37)
Canonical SPDI:: NC_000008.11:19505786:C:A
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.19505787C>A, NC_000008.10:g.19363298C>A, NM_018371.5:c.48G>T, NM_018371.4:c.48G>T, XM_006716360.4:c.48G>T, XM_006716360.3:c.48G>T, XM_006716360.2:c.48G>T, XM_006716360.1:c.48G>T, XM_006716364.4:c.48G>T, XM_006716364.3:c.48G>T, XM_006716364.2:c.48G>T, XM_006716364.1:c.48G>T, XM_011544578.3:c.48G>T, XM_011544578.2:c.48G>T, XM_011544578.1:c.48G>T, NR_024040.3:n.505G>T, NR_024040.2:n.505G>T, NR_024040.1:n.494G>T, XM_017013638.2:c.48G>T, XM_017013638.1:c.48G>T, NR_148902.2:n.832G>T, NR_148902.1:n.1148G>T, NM_001354490.2:c.48G>T, NM_001354490.1:c.48G>T, NR_148901.2:n.677G>T, NR_148901.1:n.993G>T, NM_001354491.2:c.48G>T, NM_001354491.1:c.48G>T, XM_024447193.2:c.48G>T, XM_024447193.1:c.48G>T, NM_001354499.2:c.48G>T, NM_001354499.1:c.48G>T, NM_001354495.2:c.48G>T, NM_001354495.1:c.48G>T, NM_001354496.2:c.48G>T, NM_001354496.1:c.48G>T, NM_001354494.2:c.48G>T, NM_001354494.1:c.48G>T, NR_148899.2:n.531G>T, NR_148899.1:n.560G>T, NM_001354480.2:c.48G>T, NM_001354480.1:c.48G>T, XM_011544583.2:c.48G>T, XM_011544583.1:c.48G>T, NM_001130518.2:c.48G>T, NM_001130518.1:c.48G>T, NR_148898.2:n.498G>T, NR_148898.1:n.619G>T, NM_001354498.2:c.48G>T, NM_001354498.1:c.48G>T, NR_148900.2:n.531G>T, NR_148900.1:n.560G>T, NM_001354487.2:c.48G>T, NM_001354487.1:c.48G>T, NM_001354485.2:c.48G>T, NM_001354485.1:c.48G>T, NM_001354489.2:c.48G>T, NM_001354489.1:c.48G>T, NM_001354492.2:c.48G>T, NM_001354492.1:c.48G>T, NM_001354484.2:c.48G>T, NM_001354484.1:c.48G>T, NM_001354481.2:c.48G>T, NM_001354481.1:c.48G>T, NM_001354477.2:c.48G>T, NM_001354477.1:c.48G>T, NM_001354488.2:c.48G>T, NM_001354488.1:c.48G>T, NM_001354475.2:c.48G>T, NM_001354475.1:c.48G>T, XM_017013625.2:c.48G>T, XM_017013625.1:c.48G>T, NM_001354497.2:c.48G>T, NM_001354497.1:c.48G>T, NR_148897.2:n.498G>T, NR_148897.1:n.619G>T, XM_024447191.2:c.48G>T, XM_024447191.1:c.48G>T, NM_001354483.2:c.48G>T, NM_001354483.1:c.48G>T, XM_024447192.2:c.48G>T, XM_024447192.1:c.48G>T, NM_001354476.2:c.48G>T, NM_001354476.1:c.48G>T, XM_047421974.1:c.48G>T, XM_047421970.1:c.48G>T, XM_047421968.1:c.48G>T, XM_047421979.1:c.48G>T, XM_047421962.1:c.48G>T, XM_047421964.1:c.48G>T, XM_047421972.1:c.48G>T, XM_047421969.1:c.48G>T, XM_006716363.1:c.48G>T, XM_047421965.1:c.48G>T, XM_047421978.1:c.48G>T, XM_047421976.1:c.48G>T, XM_047421967.1:c.48G>T, XM_047421963.1:c.48G>T, XM_047421973.1:c.48G>T, XM_047421960.1:c.48G>T, XM_047421966.1:c.48G>T, XM_047421971.1:c.48G>T, XM_047421961.1:c.48G>T, XM_047421975.1:c.48G>T, XM_047421977.1:c.48G>T, XM_024447190.1:c.48G>T, XR_007060745.1:n.677G>T

Select item 147004361413.

rs1470043614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:19505579 (GRCh38)
8:19363090 (GRCh37)
Canonical SPDI:: NC_000008.11:19505578:G:A,NC_000008.11:19505578:G:C
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.19505579G>A, NC_000008.11:g.19505579G>C, NC_000008.10:g.19363090G>A, NC_000008.10:g.19363090G>C, NM_018371.5:c.256C>T, NM_018371.5:c.256C>G, NM_018371.4:c.256C>T, NM_018371.4:c.256C>G, XM_006716360.4:c.256C>T, XM_006716360.4:c.256C>G, XM_006716360.3:c.256C>T, XM_006716360.3:c.256C>G, XM_006716360.2:c.256C>T, XM_006716360.2:c.256C>G, XM_006716360.1:c.256C>T, XM_006716360.1:c.256C>G, XM_006716364.4:c.256C>T, XM_006716364.4:c.256C>G, XM_006716364.3:c.256C>T, XM_006716364.3:c.256C>G, XM_006716364.2:c.256C>T, XM_006716364.2:c.256C>G, XM_006716364.1:c.256C>T, XM_006716364.1:c.256C>G, XM_011544578.3:c.256C>T, XM_011544578.3:c.256C>G, XM_011544578.2:c.256C>T, XM_011544578.2:c.256C>G, XM_011544578.1:c.256C>T, XM_011544578.1:c.256C>G, NR_024040.3:n.713C>T, NR_024040.3:n.713C>G, NR_024040.2:n.713C>T, NR_024040.2:n.713C>G, NR_024040.1:n.702C>T, NR_024040.1:n.702C>G, XM_017013638.2:c.256C>T, XM_017013638.2:c.256C>G, XM_017013638.1:c.256C>T, XM_017013638.1:c.256C>G, NR_148902.2:n.1040C>T, NR_148902.2:n.1040C>G, NR_148902.1:n.1356C>T, NR_148902.1:n.1356C>G, NM_001354490.2:c.256C>T, NM_001354490.2:c.256C>G, NM_001354490.1:c.256C>T, NM_001354490.1:c.256C>G, NR_148901.2:n.885C>T, NR_148901.2:n.885C>G, NR_148901.1:n.1201C>T, NR_148901.1:n.1201C>G, NM_001354491.2:c.256C>T, NM_001354491.2:c.256C>G, NM_001354491.1:c.256C>T, NM_001354491.1:c.256C>G, XM_024447193.2:c.256C>T, XM_024447193.2:c.256C>G, XM_024447193.1:c.256C>T, XM_024447193.1:c.256C>G, NM_001354499.2:c.256C>T, NM_001354499.2:c.256C>G, NM_001354499.1:c.256C>T, NM_001354499.1:c.256C>G, NM_001354495.2:c.256C>T, NM_001354495.2:c.256C>G, NM_001354495.1:c.256C>T, NM_001354495.1:c.256C>G, NM_001354496.2:c.256C>T, NM_001354496.2:c.256C>G, NM_001354496.1:c.256C>T, NM_001354496.1:c.256C>G, NM_001354494.2:c.256C>T, NM_001354494.2:c.256C>G, NM_001354494.1:c.256C>T, NM_001354494.1:c.256C>G, NR_148899.2:n.739C>T, NR_148899.2:n.739C>G, NR_148899.1:n.768C>T, NR_148899.1:n.768C>G, NM_001354480.2:c.256C>T, NM_001354480.2:c.256C>G, NM_001354480.1:c.256C>T, NM_001354480.1:c.256C>G, XM_011544583.2:c.256C>T, XM_011544583.2:c.256C>G, XM_011544583.1:c.256C>T, XM_011544583.1:c.256C>G, NM_001130518.2:c.256C>T, NM_001130518.2:c.256C>G, NM_001130518.1:c.256C>T, NM_001130518.1:c.256C>G, NR_148898.2:n.706C>T, NR_148898.2:n.706C>G, NR_148898.1:n.827C>T, NR_148898.1:n.827C>G, NM_001354498.2:c.256C>T, NM_001354498.2:c.256C>G, NM_001354498.1:c.256C>T, NM_001354498.1:c.256C>G, NR_148900.2:n.739C>T, NR_148900.2:n.739C>G, NR_148900.1:n.768C>T, NR_148900.1:n.768C>G, NM_001354487.2:c.256C>T, NM_001354487.2:c.256C>G, NM_001354487.1:c.256C>T, NM_001354487.1:c.256C>G, NM_001354485.2:c.256C>T, NM_001354485.2:c.256C>G, NM_001354485.1:c.256C>T, NM_001354485.1:c.256C>G, NM_001354489.2:c.256C>T, NM_001354489.2:c.256C>G, NM_001354489.1:c.256C>T, NM_001354489.1:c.256C>G, NM_001354492.2:c.256C>T, NM_001354492.2:c.256C>G, NM_001354492.1:c.256C>T, NM_001354492.1:c.256C>G, NM_001354484.2:c.256C>T, NM_001354484.2:c.256C>G, NM_001354484.1:c.256C>T, NM_001354484.1:c.256C>G, NM_001354481.2:c.256C>T, NM_001354481.2:c.256C>G, NM_001354481.1:c.256C>T, NM_001354481.1:c.256C>G, NM_001354477.2:c.256C>T, NM_001354477.2:c.256C>G, NM_001354477.1:c.256C>T, NM_001354477.1:c.256C>G, NM_001354488.2:c.256C>T, NM_001354488.2:c.256C>G, NM_001354488.1:c.256C>T, NM_001354488.1:c.256C>G, NM_001354475.2:c.256C>T, NM_001354475.2:c.256C>G, NM_001354475.1:c.256C>T, NM_001354475.1:c.256C>G, XM_017013625.2:c.256C>T, XM_017013625.2:c.256C>G, XM_017013625.1:c.256C>T, XM_017013625.1:c.256C>G, NM_001354497.2:c.256C>T, NM_001354497.2:c.256C>G, NM_001354497.1:c.256C>T, NM_001354497.1:c.256C>G, NR_148897.2:n.706C>T, NR_148897.2:n.706C>G, NR_148897.1:n.827C>T, NR_148897.1:n.827C>G, XM_024447191.2:c.256C>T, XM_024447191.2:c.256C>G, XM_024447191.1:c.256C>T, XM_024447191.1:c.256C>G, NM_001354483.2:c.256C>T, NM_001354483.2:c.256C>G, NM_001354483.1:c.256C>T, NM_001354483.1:c.256C>G, XM_024447192.2:c.256C>T, XM_024447192.2:c.256C>G, XM_024447192.1:c.256C>T, XM_024447192.1:c.256C>G, NM_001354476.2:c.256C>T, NM_001354476.2:c.256C>G, NM_001354476.1:c.256C>T, NM_001354476.1:c.256C>G, XM_047421974.1:c.256C>T, XM_047421974.1:c.256C>G, XM_047421970.1:c.256C>T, XM_047421970.1:c.256C>G, XM_047421968.1:c.256C>T, XM_047421968.1:c.256C>G, XM_047421979.1:c.256C>T, XM_047421979.1:c.256C>G, XM_047421962.1:c.256C>T, XM_047421962.1:c.256C>G, XM_047421964.1:c.256C>T, XM_047421964.1:c.256C>G, XM_047421972.1:c.256C>T, XM_047421972.1:c.256C>G, XM_047421969.1:c.256C>T, XM_047421969.1:c.256C>G, XM_006716363.1:c.256C>T, XM_006716363.1:c.256C>G, XM_047421965.1:c.256C>T, XM_047421965.1:c.256C>G, XM_047421978.1:c.256C>T, XM_047421978.1:c.256C>G, XM_047421976.1:c.256C>T, XM_047421976.1:c.256C>G, XM_047421967.1:c.256C>T, XM_047421967.1:c.256C>G, XM_047421963.1:c.256C>T, XM_047421963.1:c.256C>G, XM_047421973.1:c.256C>T, XM_047421973.1:c.256C>G, XM_047421960.1:c.256C>T, XM_047421960.1:c.256C>G, XM_047421966.1:c.256C>T, XM_047421966.1:c.256C>G, XM_047421971.1:c.256C>T, XM_047421971.1:c.256C>G, XM_047421961.1:c.256C>T, XM_047421961.1:c.256C>G, XM_047421975.1:c.256C>T, XM_047421975.1:c.256C>G, XM_047421977.1:c.256C>T, XM_047421977.1:c.256C>G, XM_024447190.1:c.256C>T, XM_024447190.1:c.256C>G, XR_007060745.1:n.885C>T, XR_007060745.1:n.885C>G, NP_060841.5:p.Leu86Val, XP_006716423.1:p.Leu86Val, XP_006716427.1:p.Leu86Val, XP_011542880.1:p.Leu86Val, XP_016869127.1:p.Leu86Val, NP_001341419.1:p.Leu86Val, NP_001341420.1:p.Leu86Val, XP_024302961.1:p.Leu86Val, NP_001341428.1:p.Leu86Val, NP_001341424.1:p.Leu86Val, NP_001341425.1:p.Leu86Val, NP_001341423.1:p.Leu86Val, NP_001341409.1:p.Leu86Val, XP_011542885.1:p.Leu86Val, NP_001123990.1:p.Leu86Val, NP_001341427.1:p.Leu86Val, NP_001341416.1:p.Leu86Val, NP_001341414.1:p.Leu86Val, NP_001341418.1:p.Leu86Val, NP_001341421.1:p.Leu86Val, NP_001341413.1:p.Leu86Val, NP_001341410.1:p.Leu86Val, NP_001341406.1:p.Leu86Val, NP_001341417.1:p.Leu86Val, NP_001341404.1:p.Leu86Val, XP_016869114.1:p.Leu86Val, NP_001341426.1:p.Leu86Val, XP_024302959.1:p.Leu86Val, NP_001341412.1:p.Leu86Val, XP_024302960.1:p.Leu86Val, NP_001341405.1:p.Leu86Val, XP_047277930.1:p.Leu86Val, XP_047277926.1:p.Leu86Val, XP_047277924.1:p.Leu86Val, XP_047277935.1:p.Leu86Val, XP_047277918.1:p.Leu86Val, XP_047277920.1:p.Leu86Val, XP_047277928.1:p.Leu86Val, XP_047277925.1:p.Leu86Val, XP_006716426.1:p.Leu86Val, XP_047277921.1:p.Leu86Val, XP_047277934.1:p.Leu86Val, XP_047277932.1:p.Leu86Val, XP_047277923.1:p.Leu86Val, XP_047277919.1:p.Leu86Val, XP_047277929.1:p.Leu86Val, XP_047277916.1:p.Leu86Val, XP_047277922.1:p.Leu86Val, XP_047277927.1:p.Leu86Val, XP_047277917.1:p.Leu86Val, XP_047277931.1:p.Leu86Val, XP_047277933.1:p.Leu86Val, XP_024302958.1:p.Leu86Val

Select item 146851873114.

rs1468518731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:19505821 (GRCh38)
8:19363332 (GRCh37)
Canonical SPDI:: NC_000008.11:19505820:C:G,NC_000008.11:19505820:C:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19505821C>G, NC_000008.11:g.19505821C>T, NC_000008.10:g.19363332C>G, NC_000008.10:g.19363332C>T, NM_018371.5:c.14G>C, NM_018371.5:c.14G>A, NM_018371.4:c.14G>C, NM_018371.4:c.14G>A, XM_006716360.4:c.14G>C, XM_006716360.4:c.14G>A, XM_006716360.3:c.14G>C, XM_006716360.3:c.14G>A, XM_006716360.2:c.14G>C, XM_006716360.2:c.14G>A, XM_006716360.1:c.14G>C, XM_006716360.1:c.14G>A, XM_006716364.4:c.14G>C, XM_006716364.4:c.14G>A, XM_006716364.3:c.14G>C, XM_006716364.3:c.14G>A, XM_006716364.2:c.14G>C, XM_006716364.2:c.14G>A, XM_006716364.1:c.14G>C, XM_006716364.1:c.14G>A, XM_011544578.3:c.14G>C, XM_011544578.3:c.14G>A, XM_011544578.2:c.14G>C, XM_011544578.2:c.14G>A, XM_011544578.1:c.14G>C, XM_011544578.1:c.14G>A, NR_024040.3:n.471G>C, NR_024040.3:n.471G>A, NR_024040.2:n.471G>C, NR_024040.2:n.471G>A, NR_024040.1:n.460G>C, NR_024040.1:n.460G>A, XM_017013638.2:c.14G>C, XM_017013638.2:c.14G>A, XM_017013638.1:c.14G>C, XM_017013638.1:c.14G>A, NR_148902.2:n.798G>C, NR_148902.2:n.798G>A, NR_148902.1:n.1114G>C, NR_148902.1:n.1114G>A, NM_001354490.2:c.14G>C, NM_001354490.2:c.14G>A, NM_001354490.1:c.14G>C, NM_001354490.1:c.14G>A, NR_148901.2:n.643G>C, NR_148901.2:n.643G>A, NR_148901.1:n.959G>C, NR_148901.1:n.959G>A, NM_001354491.2:c.14G>C, NM_001354491.2:c.14G>A, NM_001354491.1:c.14G>C, NM_001354491.1:c.14G>A, XM_024447193.2:c.14G>C, XM_024447193.2:c.14G>A, XM_024447193.1:c.14G>C, XM_024447193.1:c.14G>A, NM_001354499.2:c.14G>C, NM_001354499.2:c.14G>A, NM_001354499.1:c.14G>C, NM_001354499.1:c.14G>A, NM_001354495.2:c.14G>C, NM_001354495.2:c.14G>A, NM_001354495.1:c.14G>C, NM_001354495.1:c.14G>A, NM_001354496.2:c.14G>C, NM_001354496.2:c.14G>A, NM_001354496.1:c.14G>C, NM_001354496.1:c.14G>A, NM_001354494.2:c.14G>C, NM_001354494.2:c.14G>A, NM_001354494.1:c.14G>C, NM_001354494.1:c.14G>A, NR_148899.2:n.497G>C, NR_148899.2:n.497G>A, NR_148899.1:n.526G>C, NR_148899.1:n.526G>A, NM_001354480.2:c.14G>C, NM_001354480.2:c.14G>A, NM_001354480.1:c.14G>C, NM_001354480.1:c.14G>A, XM_011544583.2:c.14G>C, XM_011544583.2:c.14G>A, XM_011544583.1:c.14G>C, XM_011544583.1:c.14G>A, NM_001130518.2:c.14G>C, NM_001130518.2:c.14G>A, NM_001130518.1:c.14G>C, NM_001130518.1:c.14G>A, NR_148898.2:n.464G>C, NR_148898.2:n.464G>A, NR_148898.1:n.585G>C, NR_148898.1:n.585G>A, NM_001354498.2:c.14G>C, NM_001354498.2:c.14G>A, NM_001354498.1:c.14G>C, NM_001354498.1:c.14G>A, NR_148900.2:n.497G>C, NR_148900.2:n.497G>A, NR_148900.1:n.526G>C, NR_148900.1:n.526G>A, NM_001354487.2:c.14G>C, NM_001354487.2:c.14G>A, NM_001354487.1:c.14G>C, NM_001354487.1:c.14G>A, NM_001354485.2:c.14G>C, NM_001354485.2:c.14G>A, NM_001354485.1:c.14G>C, NM_001354485.1:c.14G>A, NM_001354489.2:c.14G>C, NM_001354489.2:c.14G>A, NM_001354489.1:c.14G>C, NM_001354489.1:c.14G>A, NM_001354492.2:c.14G>C, NM_001354492.2:c.14G>A, NM_001354492.1:c.14G>C, NM_001354492.1:c.14G>A, NM_001354484.2:c.14G>C, NM_001354484.2:c.14G>A, NM_001354484.1:c.14G>C, NM_001354484.1:c.14G>A, NM_001354481.2:c.14G>C, NM_001354481.2:c.14G>A, NM_001354481.1:c.14G>C, NM_001354481.1:c.14G>A, NM_001354477.2:c.14G>C, NM_001354477.2:c.14G>A, NM_001354477.1:c.14G>C, NM_001354477.1:c.14G>A, NM_001354488.2:c.14G>C, NM_001354488.2:c.14G>A, NM_001354488.1:c.14G>C, NM_001354488.1:c.14G>A, NM_001354475.2:c.14G>C, NM_001354475.2:c.14G>A, NM_001354475.1:c.14G>C, NM_001354475.1:c.14G>A, XM_017013625.2:c.14G>C, XM_017013625.2:c.14G>A, XM_017013625.1:c.14G>C, XM_017013625.1:c.14G>A, NM_001354497.2:c.14G>C, NM_001354497.2:c.14G>A, NM_001354497.1:c.14G>C, NM_001354497.1:c.14G>A, NR_148897.2:n.464G>C, NR_148897.2:n.464G>A, NR_148897.1:n.585G>C, NR_148897.1:n.585G>A, XM_024447191.2:c.14G>C, XM_024447191.2:c.14G>A, XM_024447191.1:c.14G>C, XM_024447191.1:c.14G>A, NM_001354483.2:c.14G>C, NM_001354483.2:c.14G>A, NM_001354483.1:c.14G>C, NM_001354483.1:c.14G>A, XM_024447192.2:c.14G>C, XM_024447192.2:c.14G>A, XM_024447192.1:c.14G>C, XM_024447192.1:c.14G>A, NM_001354476.2:c.14G>C, NM_001354476.2:c.14G>A, NM_001354476.1:c.14G>C, NM_001354476.1:c.14G>A, XM_047421974.1:c.14G>C, XM_047421974.1:c.14G>A, XM_047421970.1:c.14G>C, XM_047421970.1:c.14G>A, XM_047421968.1:c.14G>C, XM_047421968.1:c.14G>A, XM_047421979.1:c.14G>C, XM_047421979.1:c.14G>A, XM_047421962.1:c.14G>C, XM_047421962.1:c.14G>A, XM_047421964.1:c.14G>C, XM_047421964.1:c.14G>A, XM_047421972.1:c.14G>C, XM_047421972.1:c.14G>A, XM_047421969.1:c.14G>C, XM_047421969.1:c.14G>A, XM_006716363.1:c.14G>C, XM_006716363.1:c.14G>A, XM_047421965.1:c.14G>C, XM_047421965.1:c.14G>A, XM_047421978.1:c.14G>C, XM_047421978.1:c.14G>A, XM_047421976.1:c.14G>C, XM_047421976.1:c.14G>A, XM_047421967.1:c.14G>C, XM_047421967.1:c.14G>A, XM_047421963.1:c.14G>C, XM_047421963.1:c.14G>A, XM_047421973.1:c.14G>C, XM_047421973.1:c.14G>A, XM_047421960.1:c.14G>C, XM_047421960.1:c.14G>A, XM_047421966.1:c.14G>C, XM_047421966.1:c.14G>A, XM_047421971.1:c.14G>C, XM_047421971.1:c.14G>A, XM_047421961.1:c.14G>C, XM_047421961.1:c.14G>A, XM_047421975.1:c.14G>C, XM_047421975.1:c.14G>A, XM_047421977.1:c.14G>C, XM_047421977.1:c.14G>A, XM_024447190.1:c.14G>C, XM_024447190.1:c.14G>A, XR_007060745.1:n.643G>C, XR_007060745.1:n.643G>A, NP_060841.5:p.Arg5Pro, NP_060841.5:p.Arg5His, XP_006716423.1:p.Arg5Pro, XP_006716423.1:p.Arg5His, XP_006716427.1:p.Arg5Pro, XP_006716427.1:p.Arg5His, XP_011542880.1:p.Arg5Pro, XP_011542880.1:p.Arg5His, XP_016869127.1:p.Arg5Pro, XP_016869127.1:p.Arg5His, NP_001341419.1:p.Arg5Pro, NP_001341419.1:p.Arg5His, NP_001341420.1:p.Arg5Pro, NP_001341420.1:p.Arg5His, XP_024302961.1:p.Arg5Pro, XP_024302961.1:p.Arg5His, NP_001341428.1:p.Arg5Pro, NP_001341428.1:p.Arg5His, NP_001341424.1:p.Arg5Pro, NP_001341424.1:p.Arg5His, NP_001341425.1:p.Arg5Pro, NP_001341425.1:p.Arg5His, NP_001341423.1:p.Arg5Pro, NP_001341423.1:p.Arg5His, NP_001341409.1:p.Arg5Pro, NP_001341409.1:p.Arg5His, XP_011542885.1:p.Arg5Pro, XP_011542885.1:p.Arg5His, NP_001123990.1:p.Arg5Pro, NP_001123990.1:p.Arg5His, NP_001341427.1:p.Arg5Pro, NP_001341427.1:p.Arg5His, NP_001341416.1:p.Arg5Pro, NP_001341416.1:p.Arg5His, NP_001341414.1:p.Arg5Pro, NP_001341414.1:p.Arg5His, NP_001341418.1:p.Arg5Pro, NP_001341418.1:p.Arg5His, NP_001341421.1:p.Arg5Pro, NP_001341421.1:p.Arg5His, NP_001341413.1:p.Arg5Pro, NP_001341413.1:p.Arg5His, NP_001341410.1:p.Arg5Pro, NP_001341410.1:p.Arg5His, NP_001341406.1:p.Arg5Pro, NP_001341406.1:p.Arg5His, NP_001341417.1:p.Arg5Pro, NP_001341417.1:p.Arg5His, NP_001341404.1:p.Arg5Pro, NP_001341404.1:p.Arg5His, XP_016869114.1:p.Arg5Pro, XP_016869114.1:p.Arg5His, NP_001341426.1:p.Arg5Pro, NP_001341426.1:p.Arg5His, XP_024302959.1:p.Arg5Pro, XP_024302959.1:p.Arg5His, NP_001341412.1:p.Arg5Pro, NP_001341412.1:p.Arg5His, XP_024302960.1:p.Arg5Pro, XP_024302960.1:p.Arg5His, NP_001341405.1:p.Arg5Pro, NP_001341405.1:p.Arg5His, XP_047277930.1:p.Arg5Pro, XP_047277930.1:p.Arg5His, XP_047277926.1:p.Arg5Pro, XP_047277926.1:p.Arg5His, XP_047277924.1:p.Arg5Pro, XP_047277924.1:p.Arg5His, XP_047277935.1:p.Arg5Pro, XP_047277935.1:p.Arg5His, XP_047277918.1:p.Arg5Pro, XP_047277918.1:p.Arg5His, XP_047277920.1:p.Arg5Pro, XP_047277920.1:p.Arg5His, XP_047277928.1:p.Arg5Pro, XP_047277928.1:p.Arg5His, XP_047277925.1:p.Arg5Pro, XP_047277925.1:p.Arg5His, XP_006716426.1:p.Arg5Pro, XP_006716426.1:p.Arg5His, XP_047277921.1:p.Arg5Pro, XP_047277921.1:p.Arg5His, XP_047277934.1:p.Arg5Pro, XP_047277934.1:p.Arg5His, XP_047277932.1:p.Arg5Pro, XP_047277932.1:p.Arg5His, XP_047277923.1:p.Arg5Pro, XP_047277923.1:p.Arg5His, XP_047277919.1:p.Arg5Pro, XP_047277919.1:p.Arg5His, XP_047277929.1:p.Arg5Pro, XP_047277929.1:p.Arg5His, XP_047277916.1:p.Arg5Pro, XP_047277916.1:p.Arg5His, XP_047277922.1:p.Arg5Pro, XP_047277922.1:p.Arg5His, XP_047277927.1:p.Arg5Pro, XP_047277927.1:p.Arg5His, XP_047277917.1:p.Arg5Pro, XP_047277917.1:p.Arg5His, XP_047277931.1:p.Arg5Pro, XP_047277931.1:p.Arg5His, XP_047277933.1:p.Arg5Pro, XP_047277933.1:p.Arg5His, XP_024302958.1:p.Arg5Pro, XP_024302958.1:p.Arg5His

Select item 146696032815.

rs1466960328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:19458537 (GRCh38)
8:19316048 (GRCh37)
Canonical SPDI:: NC_000008.11:19458536:G:C
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.19458537G>C, NC_000008.10:g.19316048G>C, NM_018371.5:c.740C>G, NM_018371.4:c.740C>G, XM_011544585.4:c.-5C>G, XM_011544585.3:c.-5C>G, XM_011544585.2:c.-5C>G, XM_011544585.1:c.-5C>G, XM_006716360.4:c.740C>G, XM_006716360.3:c.740C>G, XM_006716360.2:c.740C>G, XM_006716360.1:c.740C>G, XM_006716364.4:c.740C>G, XM_006716364.3:c.740C>G, XM_006716364.2:c.740C>G, XM_006716364.1:c.740C>G, XM_011544578.3:c.740C>G, XM_011544578.2:c.740C>G, XM_011544578.1:c.740C>G, NR_024040.3:n.1197C>G, NR_024040.2:n.1197C>G, NR_024040.1:n.1186C>G, XM_017013638.2:c.740C>G, XM_017013638.1:c.740C>G, NR_148902.2:n.1524C>G, NR_148902.1:n.1840C>G, NM_001354490.2:c.740C>G, NM_001354490.1:c.740C>G, NR_148901.2:n.1369C>G, NR_148901.1:n.1685C>G, NM_001354491.2:c.740C>G, NM_001354491.1:c.740C>G, XM_024447193.2:c.740C>G, XM_024447193.1:c.740C>G, NM_001354499.2:c.740C>G, NM_001354499.1:c.740C>G, NM_001354495.2:c.740C>G, NM_001354495.1:c.740C>G, NM_001354496.2:c.740C>G, NM_001354496.1:c.740C>G, NM_001354494.2:c.740C>G, NM_001354494.1:c.740C>G, NR_148899.2:n.1223C>G, NR_148899.1:n.1252C>G, NM_001354480.2:c.740C>G, NM_001354480.1:c.740C>G, XM_011544583.2:c.740C>G, XM_011544583.1:c.740C>G, NM_001130518.2:c.740C>G, NM_001130518.1:c.740C>G, NR_148898.2:n.1190C>G, NR_148898.1:n.1311C>G, NM_001354498.2:c.740C>G, NM_001354498.1:c.740C>G, NR_148900.2:n.1223C>G, NR_148900.1:n.1252C>G, NM_001354487.2:c.740C>G, NM_001354487.1:c.740C>G, NM_001354485.2:c.740C>G, NM_001354485.1:c.740C>G, NM_001354489.2:c.740C>G, NM_001354489.1:c.740C>G, NM_001354492.2:c.740C>G, NM_001354492.1:c.740C>G, NM_001354484.2:c.740C>G, NM_001354484.1:c.740C>G, NM_001354481.2:c.740C>G, NM_001354481.1:c.740C>G, NM_001354477.2:c.740C>G, NM_001354477.1:c.740C>G, NM_001354488.2:c.740C>G, NM_001354488.1:c.740C>G, NM_001354475.2:c.740C>G, NM_001354475.1:c.740C>G, XM_017013625.2:c.740C>G, XM_017013625.1:c.740C>G, NM_001354497.2:c.740C>G, NM_001354497.1:c.740C>G, NR_148897.2:n.1269C>G, NR_148897.1:n.1390C>G, XM_024447191.2:c.740C>G, XM_024447191.1:c.740C>G, NM_001354483.2:c.740C>G, NM_001354483.1:c.740C>G, XM_024447192.2:c.740C>G, XM_024447192.1:c.740C>G, NM_001354476.2:c.740C>G, NM_001354476.1:c.740C>G, XM_047421974.1:c.740C>G, XM_047421970.1:c.740C>G, XM_047421968.1:c.740C>G, XM_047421979.1:c.740C>G, XM_047421962.1:c.740C>G, XM_047421964.1:c.740C>G, XM_047421972.1:c.740C>G, XM_047421969.1:c.740C>G, XM_006716363.1:c.740C>G, XM_047421965.1:c.740C>G, XM_047421978.1:c.740C>G, XM_047421976.1:c.740C>G, XM_047421967.1:c.740C>G, XM_047421963.1:c.740C>G, XM_047421973.1:c.740C>G, XM_047421960.1:c.740C>G, XM_047421966.1:c.740C>G, XM_047421971.1:c.740C>G, XM_047421961.1:c.740C>G, XM_047421975.1:c.740C>G, XM_047421977.1:c.740C>G, XM_024447190.1:c.740C>G, XR_007060745.1:n.1369C>G, NP_060841.5:p.Pro247Arg, XP_006716423.1:p.Pro247Arg, XP_006716427.1:p.Pro247Arg, XP_011542880.1:p.Pro247Arg, XP_016869127.1:p.Pro247Arg, NP_001341419.1:p.Pro247Arg, NP_001341420.1:p.Pro247Arg, XP_024302961.1:p.Pro247Arg, NP_001341428.1:p.Pro247Arg, NP_001341424.1:p.Pro247Arg, NP_001341425.1:p.Pro247Arg, NP_001341423.1:p.Pro247Arg, NP_001341409.1:p.Pro247Arg, XP_011542885.1:p.Pro247Arg, NP_001123990.1:p.Pro247Arg, NP_001341427.1:p.Pro247Arg, NP_001341416.1:p.Pro247Arg, NP_001341414.1:p.Pro247Arg, NP_001341418.1:p.Pro247Arg, NP_001341421.1:p.Pro247Arg, NP_001341413.1:p.Pro247Arg, NP_001341410.1:p.Pro247Arg, NP_001341406.1:p.Pro247Arg, NP_001341417.1:p.Pro247Arg, NP_001341404.1:p.Pro247Arg, XP_016869114.1:p.Pro247Arg, NP_001341426.1:p.Pro247Arg, XP_024302959.1:p.Pro247Arg, NP_001341412.1:p.Pro247Arg, XP_024302960.1:p.Pro247Arg, NP_001341405.1:p.Pro247Arg, XP_047277930.1:p.Pro247Arg, XP_047277926.1:p.Pro247Arg, XP_047277924.1:p.Pro247Arg, XP_047277935.1:p.Pro247Arg, XP_047277918.1:p.Pro247Arg, XP_047277920.1:p.Pro247Arg, XP_047277928.1:p.Pro247Arg, XP_047277925.1:p.Pro247Arg, XP_006716426.1:p.Pro247Arg, XP_047277921.1:p.Pro247Arg, XP_047277934.1:p.Pro247Arg, XP_047277932.1:p.Pro247Arg, XP_047277923.1:p.Pro247Arg, XP_047277919.1:p.Pro247Arg, XP_047277929.1:p.Pro247Arg, XP_047277916.1:p.Pro247Arg, XP_047277922.1:p.Pro247Arg, XP_047277927.1:p.Pro247Arg, XP_047277917.1:p.Pro247Arg, XP_047277931.1:p.Pro247Arg, XP_047277933.1:p.Pro247Arg, XP_024302958.1:p.Pro247Arg

Select item 146530760716.

rs1465307607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19505396 (GRCh38)
8:19362907 (GRCh37)
Canonical SPDI:: NC_000008.11:19505395:G:A
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19505396G>A, NC_000008.10:g.19362907G>A, NM_018371.5:c.439C>T, NM_018371.4:c.439C>T, XM_006716360.4:c.439C>T, XM_006716360.3:c.439C>T, XM_006716360.2:c.439C>T, XM_006716360.1:c.439C>T, XM_006716364.4:c.439C>T, XM_006716364.3:c.439C>T, XM_006716364.2:c.439C>T, XM_006716364.1:c.439C>T, XM_011544578.3:c.439C>T, XM_011544578.2:c.439C>T, XM_011544578.1:c.439C>T, NR_024040.3:n.896C>T, NR_024040.2:n.896C>T, NR_024040.1:n.885C>T, XM_017013638.2:c.439C>T, XM_017013638.1:c.439C>T, NR_148902.2:n.1223C>T, NR_148902.1:n.1539C>T, NM_001354490.2:c.439C>T, NM_001354490.1:c.439C>T, NR_148901.2:n.1068C>T, NR_148901.1:n.1384C>T, NM_001354491.2:c.439C>T, NM_001354491.1:c.439C>T, XM_024447193.2:c.439C>T, XM_024447193.1:c.439C>T, NM_001354499.2:c.439C>T, NM_001354499.1:c.439C>T, NM_001354495.2:c.439C>T, NM_001354495.1:c.439C>T, NM_001354496.2:c.439C>T, NM_001354496.1:c.439C>T, NM_001354494.2:c.439C>T, NM_001354494.1:c.439C>T, NR_148899.2:n.922C>T, NR_148899.1:n.951C>T, NM_001354480.2:c.439C>T, NM_001354480.1:c.439C>T, XM_011544583.2:c.439C>T, XM_011544583.1:c.439C>T, NM_001130518.2:c.439C>T, NM_001130518.1:c.439C>T, NR_148898.2:n.889C>T, NR_148898.1:n.1010C>T, NM_001354498.2:c.439C>T, NM_001354498.1:c.439C>T, NR_148900.2:n.922C>T, NR_148900.1:n.951C>T, NM_001354487.2:c.439C>T, NM_001354487.1:c.439C>T, NM_001354485.2:c.439C>T, NM_001354485.1:c.439C>T, NM_001354489.2:c.439C>T, NM_001354489.1:c.439C>T, NM_001354492.2:c.439C>T, NM_001354492.1:c.439C>T, NM_001354484.2:c.439C>T, NM_001354484.1:c.439C>T, NM_001354481.2:c.439C>T, NM_001354481.1:c.439C>T, NM_001354477.2:c.439C>T, NM_001354477.1:c.439C>T, NM_001354488.2:c.439C>T, NM_001354488.1:c.439C>T, NM_001354475.2:c.439C>T, NM_001354475.1:c.439C>T, XM_017013625.2:c.439C>T, XM_017013625.1:c.439C>T, NM_001354497.2:c.439C>T, NM_001354497.1:c.439C>T, NR_148897.2:n.889C>T, NR_148897.1:n.1010C>T, XM_024447191.2:c.439C>T, XM_024447191.1:c.439C>T, NM_001354483.2:c.439C>T, NM_001354483.1:c.439C>T, XM_024447192.2:c.439C>T, XM_024447192.1:c.439C>T, NM_001354476.2:c.439C>T, NM_001354476.1:c.439C>T, XM_047421974.1:c.439C>T, XM_047421970.1:c.439C>T, XM_047421968.1:c.439C>T, XM_047421979.1:c.439C>T, XM_047421962.1:c.439C>T, XM_047421964.1:c.439C>T, XM_047421972.1:c.439C>T, XM_047421969.1:c.439C>T, XM_006716363.1:c.439C>T, XM_047421965.1:c.439C>T, XM_047421978.1:c.439C>T, XM_047421976.1:c.439C>T, XM_047421967.1:c.439C>T, XM_047421963.1:c.439C>T, XM_047421973.1:c.439C>T, XM_047421960.1:c.439C>T, XM_047421966.1:c.439C>T, XM_047421971.1:c.439C>T, XM_047421961.1:c.439C>T, XM_047421975.1:c.439C>T, XM_047421977.1:c.439C>T, XM_024447190.1:c.439C>T, XR_007060745.1:n.1068C>T, NP_060841.5:p.Pro147Ser, XP_006716423.1:p.Pro147Ser, XP_006716427.1:p.Pro147Ser, XP_011542880.1:p.Pro147Ser, XP_016869127.1:p.Pro147Ser, NP_001341419.1:p.Pro147Ser, NP_001341420.1:p.Pro147Ser, XP_024302961.1:p.Pro147Ser, NP_001341428.1:p.Pro147Ser, NP_001341424.1:p.Pro147Ser, NP_001341425.1:p.Pro147Ser, NP_001341423.1:p.Pro147Ser, NP_001341409.1:p.Pro147Ser, XP_011542885.1:p.Pro147Ser, NP_001123990.1:p.Pro147Ser, NP_001341427.1:p.Pro147Ser, NP_001341416.1:p.Pro147Ser, NP_001341414.1:p.Pro147Ser, NP_001341418.1:p.Pro147Ser, NP_001341421.1:p.Pro147Ser, NP_001341413.1:p.Pro147Ser, NP_001341410.1:p.Pro147Ser, NP_001341406.1:p.Pro147Ser, NP_001341417.1:p.Pro147Ser, NP_001341404.1:p.Pro147Ser, XP_016869114.1:p.Pro147Ser, NP_001341426.1:p.Pro147Ser, XP_024302959.1:p.Pro147Ser, NP_001341412.1:p.Pro147Ser, XP_024302960.1:p.Pro147Ser, NP_001341405.1:p.Pro147Ser, XP_047277930.1:p.Pro147Ser, XP_047277926.1:p.Pro147Ser, XP_047277924.1:p.Pro147Ser, XP_047277935.1:p.Pro147Ser, XP_047277918.1:p.Pro147Ser, XP_047277920.1:p.Pro147Ser, XP_047277928.1:p.Pro147Ser, XP_047277925.1:p.Pro147Ser, XP_006716426.1:p.Pro147Ser, XP_047277921.1:p.Pro147Ser, XP_047277934.1:p.Pro147Ser, XP_047277932.1:p.Pro147Ser, XP_047277923.1:p.Pro147Ser, XP_047277919.1:p.Pro147Ser, XP_047277929.1:p.Pro147Ser, XP_047277916.1:p.Pro147Ser, XP_047277922.1:p.Pro147Ser, XP_047277927.1:p.Pro147Ser, XP_047277917.1:p.Pro147Ser, XP_047277931.1:p.Pro147Ser, XP_047277933.1:p.Pro147Ser, XP_024302958.1:p.Pro147Ser

Select item 146294642117.

rs1462946421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:19418688 (GRCh38)
8:19276199 (GRCh37)
Canonical SPDI:: NC_000008.11:19418687:G:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.19418688G>T, NC_000008.10:g.19276199G>T, NM_018371.5:c.1195C>A, NM_018371.4:c.1195C>A, XM_011544585.4:c.451C>A, XM_011544585.3:c.451C>A, XM_011544585.2:c.451C>A, XM_011544585.1:c.451C>A, XM_006716360.4:c.1195C>A, XM_006716360.3:c.1195C>A, XM_006716360.2:c.1195C>A, XM_006716360.1:c.1195C>A, XM_006716364.4:c.1195C>A, XM_006716364.3:c.1195C>A, XM_006716364.2:c.1195C>A, XM_006716364.1:c.1195C>A, XM_011544578.3:c.1195C>A, XM_011544578.2:c.1195C>A, XM_011544578.1:c.1195C>A, NR_024040.3:n.1939C>A, NR_024040.2:n.1939C>A, NR_024040.1:n.1928C>A, XM_017013638.2:c.1195C>A, XM_017013638.1:c.1195C>A, NR_148902.2:n.2266C>A, NR_148902.1:n.2582C>A, NM_001354490.2:c.1195C>A, NM_001354490.1:c.1195C>A, NR_148901.2:n.2111C>A, NR_148901.1:n.2427C>A, NM_001354491.2:c.1195C>A, NM_001354491.1:c.1195C>A, XM_024447193.2:c.1195C>A, XM_024447193.1:c.1195C>A, NM_001354499.2:c.1195C>A, NM_001354499.1:c.1195C>A, NM_001354495.2:c.1195C>A, NM_001354495.1:c.1195C>A, NM_001354496.2:c.1195C>A, NM_001354496.1:c.1195C>A, NM_001354494.2:c.1195C>A, NM_001354494.1:c.1195C>A, NR_148899.2:n.1965C>A, NR_148899.1:n.1994C>A, NM_001354480.2:c.1195C>A, NM_001354480.1:c.1195C>A, XM_011544583.2:c.1195C>A, XM_011544583.1:c.1195C>A, NM_001130518.2:c.1195C>A, NM_001130518.1:c.1195C>A, NR_148898.2:n.1932C>A, NR_148898.1:n.2053C>A, NM_001354498.2:c.1195C>A, NM_001354498.1:c.1195C>A, NR_148900.2:n.1678C>A, NR_148900.1:n.1707C>A, NM_001354487.2:c.1195C>A, NM_001354487.1:c.1195C>A, NM_001354485.2:c.1195C>A, NM_001354485.1:c.1195C>A, NM_001354489.2:c.1195C>A, NM_001354489.1:c.1195C>A, NM_001354492.2:c.1195C>A, NM_001354492.1:c.1195C>A, NM_001354484.2:c.1195C>A, NM_001354484.1:c.1195C>A, NM_001354481.2:c.1195C>A, NM_001354481.1:c.1195C>A, NM_001354477.2:c.1195C>A, NM_001354477.1:c.1195C>A, NM_001354488.2:c.1195C>A, NM_001354488.1:c.1195C>A, NM_001354475.2:c.1195C>A, NM_001354475.1:c.1195C>A, XM_017013625.2:c.1195C>A, XM_017013625.1:c.1195C>A, NM_001354497.2:c.1195C>A, NM_001354497.1:c.1195C>A, NR_148897.2:n.1724C>A, NR_148897.1:n.1845C>A, XM_024447191.2:c.1195C>A, XM_024447191.1:c.1195C>A, NM_001354483.2:c.1195C>A, NM_001354483.1:c.1195C>A, XM_024447192.2:c.1195C>A, XM_024447192.1:c.1195C>A, NM_001354476.2:c.1195C>A, NM_001354476.1:c.1195C>A, XM_047421974.1:c.1195C>A, XM_047421970.1:c.1195C>A, XM_047421968.1:c.1195C>A, XM_047421979.1:c.1195C>A, XM_047421962.1:c.1195C>A, XM_047421964.1:c.1195C>A, XM_047421972.1:c.1195C>A, XM_047421969.1:c.1195C>A, XM_006716363.1:c.1195C>A, XM_047421965.1:c.1195C>A, XM_047421978.1:c.1195C>A, XM_047421976.1:c.1195C>A, XM_047421967.1:c.1195C>A, XM_047421963.1:c.1195C>A, XM_047421973.1:c.1195C>A, XM_047421960.1:c.1195C>A, XM_047421966.1:c.1195C>A, XM_047421971.1:c.1195C>A, XM_047421961.1:c.1195C>A, XM_047421975.1:c.1195C>A, XM_047421977.1:c.1195C>A, XM_024447190.1:c.1195C>A, XR_007060745.1:n.1824C>A, NP_060841.5:p.His399Asn, XP_011542887.1:p.His151Asn, XP_006716423.1:p.His399Asn, XP_006716427.1:p.His399Asn, XP_011542880.1:p.His399Asn, XP_016869127.1:p.His399Asn, NP_001341419.1:p.His399Asn, NP_001341420.1:p.His399Asn, XP_024302961.1:p.His399Asn, NP_001341428.1:p.His399Asn, NP_001341424.1:p.His399Asn, NP_001341425.1:p.His399Asn, NP_001341423.1:p.His399Asn, NP_001341409.1:p.His399Asn, XP_011542885.1:p.His399Asn, NP_001123990.1:p.His399Asn, NP_001341427.1:p.His399Asn, NP_001341416.1:p.His399Asn, NP_001341414.1:p.His399Asn, NP_001341418.1:p.His399Asn, NP_001341421.1:p.His399Asn, NP_001341413.1:p.His399Asn, NP_001341410.1:p.His399Asn, NP_001341406.1:p.His399Asn, NP_001341417.1:p.His399Asn, NP_001341404.1:p.His399Asn, XP_016869114.1:p.His399Asn, NP_001341426.1:p.His399Asn, XP_024302959.1:p.His399Asn, NP_001341412.1:p.His399Asn, XP_024302960.1:p.His399Asn, NP_001341405.1:p.His399Asn, XP_047277930.1:p.His399Asn, XP_047277926.1:p.His399Asn, XP_047277924.1:p.His399Asn, XP_047277935.1:p.His399Asn, XP_047277918.1:p.His399Asn, XP_047277920.1:p.His399Asn, XP_047277928.1:p.His399Asn, XP_047277925.1:p.His399Asn, XP_006716426.1:p.His399Asn, XP_047277921.1:p.His399Asn, XP_047277934.1:p.His399Asn, XP_047277932.1:p.His399Asn, XP_047277923.1:p.His399Asn, XP_047277919.1:p.His399Asn, XP_047277929.1:p.His399Asn, XP_047277916.1:p.His399Asn, XP_047277922.1:p.His399Asn, XP_047277927.1:p.His399Asn, XP_047277917.1:p.His399Asn, XP_047277931.1:p.His399Asn, XP_047277933.1:p.His399Asn, XP_024302958.1:p.His399Asn

Select item 146072295518.

rs1460722955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19420514 (GRCh38)
8:19278025 (GRCh37)
Canonical SPDI:: NC_000008.11:19420513:C:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.00009/1 (ALFA)
HGVS:: NC_000008.11:g.19420514C>T, NC_000008.10:g.19278025C>T, NM_018371.5:c.958G>A, NM_018371.4:c.958G>A, XM_011544585.4:c.214G>A, XM_011544585.3:c.214G>A, XM_011544585.2:c.214G>A, XM_011544585.1:c.214G>A, XM_006716360.4:c.958G>A, XM_006716360.3:c.958G>A, XM_006716360.2:c.958G>A, XM_006716360.1:c.958G>A, XM_006716364.4:c.958G>A, XM_006716364.3:c.958G>A, XM_006716364.2:c.958G>A, XM_006716364.1:c.958G>A, XM_011544578.3:c.958G>A, XM_011544578.2:c.958G>A, XM_011544578.1:c.958G>A, NR_024040.3:n.1702G>A, NR_024040.2:n.1702G>A, NR_024040.1:n.1691G>A, XM_017013638.2:c.958G>A, XM_017013638.1:c.958G>A, NR_148902.2:n.2029G>A, NR_148902.1:n.2345G>A, NM_001354490.2:c.958G>A, NM_001354490.1:c.958G>A, NR_148901.2:n.1874G>A, NR_148901.1:n.2190G>A, NM_001354491.2:c.958G>A, NM_001354491.1:c.958G>A, XM_024447193.2:c.958G>A, XM_024447193.1:c.958G>A, NM_001354499.2:c.958G>A, NM_001354499.1:c.958G>A, NM_001354495.2:c.958G>A, NM_001354495.1:c.958G>A, NM_001354496.2:c.958G>A, NM_001354496.1:c.958G>A, NM_001354494.2:c.958G>A, NM_001354494.1:c.958G>A, NR_148899.2:n.1728G>A, NR_148899.1:n.1757G>A, NM_001354480.2:c.958G>A, NM_001354480.1:c.958G>A, XM_011544583.2:c.958G>A, XM_011544583.1:c.958G>A, NM_001130518.2:c.958G>A, NM_001130518.1:c.958G>A, NR_148898.2:n.1695G>A, NR_148898.1:n.1816G>A, NM_001354498.2:c.958G>A, NM_001354498.1:c.958G>A, NR_148900.2:n.1441G>A, NR_148900.1:n.1470G>A, NM_001354487.2:c.958G>A, NM_001354487.1:c.958G>A, NM_001354485.2:c.958G>A, NM_001354485.1:c.958G>A, NM_001354489.2:c.958G>A, NM_001354489.1:c.958G>A, NM_001354492.2:c.958G>A, NM_001354492.1:c.958G>A, NM_001354484.2:c.958G>A, NM_001354484.1:c.958G>A, NM_001354481.2:c.958G>A, NM_001354481.1:c.958G>A, NM_001354477.2:c.958G>A, NM_001354477.1:c.958G>A, NM_001354488.2:c.958G>A, NM_001354488.1:c.958G>A, NM_001354475.2:c.958G>A, NM_001354475.1:c.958G>A, XM_017013625.2:c.958G>A, XM_017013625.1:c.958G>A, NM_001354497.2:c.958G>A, NM_001354497.1:c.958G>A, NR_148897.2:n.1487G>A, NR_148897.1:n.1608G>A, XM_024447191.2:c.958G>A, XM_024447191.1:c.958G>A, NM_001354483.2:c.958G>A, NM_001354483.1:c.958G>A, XM_024447192.2:c.958G>A, XM_024447192.1:c.958G>A, NM_001354476.2:c.958G>A, NM_001354476.1:c.958G>A, XM_047421974.1:c.958G>A, XM_047421970.1:c.958G>A, XM_047421968.1:c.958G>A, XM_047421979.1:c.958G>A, XM_047421962.1:c.958G>A, XM_047421964.1:c.958G>A, XM_047421972.1:c.958G>A, XM_047421969.1:c.958G>A, XM_006716363.1:c.958G>A, XM_047421965.1:c.958G>A, XM_047421978.1:c.958G>A, XM_047421976.1:c.958G>A, XM_047421967.1:c.958G>A, XM_047421963.1:c.958G>A, XM_047421973.1:c.958G>A, XM_047421960.1:c.958G>A, XM_047421966.1:c.958G>A, XM_047421971.1:c.958G>A, XM_047421961.1:c.958G>A, XM_047421975.1:c.958G>A, XM_047421977.1:c.958G>A, XM_024447190.1:c.958G>A, XR_007060745.1:n.1587G>A, NP_060841.5:p.Ala320Thr, XP_011542887.1:p.Ala72Thr, XP_006716423.1:p.Ala320Thr, XP_006716427.1:p.Ala320Thr, XP_011542880.1:p.Ala320Thr, XP_016869127.1:p.Ala320Thr, NP_001341419.1:p.Ala320Thr, NP_001341420.1:p.Ala320Thr, XP_024302961.1:p.Ala320Thr, NP_001341428.1:p.Ala320Thr, NP_001341424.1:p.Ala320Thr, NP_001341425.1:p.Ala320Thr, NP_001341423.1:p.Ala320Thr, NP_001341409.1:p.Ala320Thr, XP_011542885.1:p.Ala320Thr, NP_001123990.1:p.Ala320Thr, NP_001341427.1:p.Ala320Thr, NP_001341416.1:p.Ala320Thr, NP_001341414.1:p.Ala320Thr, NP_001341418.1:p.Ala320Thr, NP_001341421.1:p.Ala320Thr, NP_001341413.1:p.Ala320Thr, NP_001341410.1:p.Ala320Thr, NP_001341406.1:p.Ala320Thr, NP_001341417.1:p.Ala320Thr, NP_001341404.1:p.Ala320Thr, XP_016869114.1:p.Ala320Thr, NP_001341426.1:p.Ala320Thr, XP_024302959.1:p.Ala320Thr, NP_001341412.1:p.Ala320Thr, XP_024302960.1:p.Ala320Thr, NP_001341405.1:p.Ala320Thr, XP_047277930.1:p.Ala320Thr, XP_047277926.1:p.Ala320Thr, XP_047277924.1:p.Ala320Thr, XP_047277935.1:p.Ala320Thr, XP_047277918.1:p.Ala320Thr, XP_047277920.1:p.Ala320Thr, XP_047277928.1:p.Ala320Thr, XP_047277925.1:p.Ala320Thr, XP_006716426.1:p.Ala320Thr, XP_047277921.1:p.Ala320Thr, XP_047277934.1:p.Ala320Thr, XP_047277932.1:p.Ala320Thr, XP_047277923.1:p.Ala320Thr, XP_047277919.1:p.Ala320Thr, XP_047277929.1:p.Ala320Thr, XP_047277916.1:p.Ala320Thr, XP_047277922.1:p.Ala320Thr, XP_047277927.1:p.Ala320Thr, XP_047277917.1:p.Ala320Thr, XP_047277931.1:p.Ala320Thr, XP_047277933.1:p.Ala320Thr, XP_024302958.1:p.Ala320Thr

Select item 146008410019.

rs1460084100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:19505791 (GRCh38)
8:19363302 (GRCh37)
Canonical SPDI:: NC_000008.11:19505790:A:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.19505791A>T, NC_000008.10:g.19363302A>T, NM_018371.5:c.44T>A, NM_018371.4:c.44T>A, XM_006716360.4:c.44T>A, XM_006716360.3:c.44T>A, XM_006716360.2:c.44T>A, XM_006716360.1:c.44T>A, XM_006716364.4:c.44T>A, XM_006716364.3:c.44T>A, XM_006716364.2:c.44T>A, XM_006716364.1:c.44T>A, XM_011544578.3:c.44T>A, XM_011544578.2:c.44T>A, XM_011544578.1:c.44T>A, NR_024040.3:n.501T>A, NR_024040.2:n.501T>A, NR_024040.1:n.490T>A, XM_017013638.2:c.44T>A, XM_017013638.1:c.44T>A, NR_148902.2:n.828T>A, NR_148902.1:n.1144T>A, NM_001354490.2:c.44T>A, NM_001354490.1:c.44T>A, NR_148901.2:n.673T>A, NR_148901.1:n.989T>A, NM_001354491.2:c.44T>A, NM_001354491.1:c.44T>A, XM_024447193.2:c.44T>A, XM_024447193.1:c.44T>A, NM_001354499.2:c.44T>A, NM_001354499.1:c.44T>A, NM_001354495.2:c.44T>A, NM_001354495.1:c.44T>A, NM_001354496.2:c.44T>A, NM_001354496.1:c.44T>A, NM_001354494.2:c.44T>A, NM_001354494.1:c.44T>A, NR_148899.2:n.527T>A, NR_148899.1:n.556T>A, NM_001354480.2:c.44T>A, NM_001354480.1:c.44T>A, XM_011544583.2:c.44T>A, XM_011544583.1:c.44T>A, NM_001130518.2:c.44T>A, NM_001130518.1:c.44T>A, NR_148898.2:n.494T>A, NR_148898.1:n.615T>A, NM_001354498.2:c.44T>A, NM_001354498.1:c.44T>A, NR_148900.2:n.527T>A, NR_148900.1:n.556T>A, NM_001354487.2:c.44T>A, NM_001354487.1:c.44T>A, NM_001354485.2:c.44T>A, NM_001354485.1:c.44T>A, NM_001354489.2:c.44T>A, NM_001354489.1:c.44T>A, NM_001354492.2:c.44T>A, NM_001354492.1:c.44T>A, NM_001354484.2:c.44T>A, NM_001354484.1:c.44T>A, NM_001354481.2:c.44T>A, NM_001354481.1:c.44T>A, NM_001354477.2:c.44T>A, NM_001354477.1:c.44T>A, NM_001354488.2:c.44T>A, NM_001354488.1:c.44T>A, NM_001354475.2:c.44T>A, NM_001354475.1:c.44T>A, XM_017013625.2:c.44T>A, XM_017013625.1:c.44T>A, NM_001354497.2:c.44T>A, NM_001354497.1:c.44T>A, NR_148897.2:n.494T>A, NR_148897.1:n.615T>A, XM_024447191.2:c.44T>A, XM_024447191.1:c.44T>A, NM_001354483.2:c.44T>A, NM_001354483.1:c.44T>A, XM_024447192.2:c.44T>A, XM_024447192.1:c.44T>A, NM_001354476.2:c.44T>A, NM_001354476.1:c.44T>A, XM_047421974.1:c.44T>A, XM_047421970.1:c.44T>A, XM_047421968.1:c.44T>A, XM_047421979.1:c.44T>A, XM_047421962.1:c.44T>A, XM_047421964.1:c.44T>A, XM_047421972.1:c.44T>A, XM_047421969.1:c.44T>A, XM_006716363.1:c.44T>A, XM_047421965.1:c.44T>A, XM_047421978.1:c.44T>A, XM_047421976.1:c.44T>A, XM_047421967.1:c.44T>A, XM_047421963.1:c.44T>A, XM_047421973.1:c.44T>A, XM_047421960.1:c.44T>A, XM_047421966.1:c.44T>A, XM_047421971.1:c.44T>A, XM_047421961.1:c.44T>A, XM_047421975.1:c.44T>A, XM_047421977.1:c.44T>A, XM_024447190.1:c.44T>A, XR_007060745.1:n.673T>A, NP_060841.5:p.Val15Glu, XP_006716423.1:p.Val15Glu, XP_006716427.1:p.Val15Glu, XP_011542880.1:p.Val15Glu, XP_016869127.1:p.Val15Glu, NP_001341419.1:p.Val15Glu, NP_001341420.1:p.Val15Glu, XP_024302961.1:p.Val15Glu, NP_001341428.1:p.Val15Glu, NP_001341424.1:p.Val15Glu, NP_001341425.1:p.Val15Glu, NP_001341423.1:p.Val15Glu, NP_001341409.1:p.Val15Glu, XP_011542885.1:p.Val15Glu, NP_001123990.1:p.Val15Glu, NP_001341427.1:p.Val15Glu, NP_001341416.1:p.Val15Glu, NP_001341414.1:p.Val15Glu, NP_001341418.1:p.Val15Glu, NP_001341421.1:p.Val15Glu, NP_001341413.1:p.Val15Glu, NP_001341410.1:p.Val15Glu, NP_001341406.1:p.Val15Glu, NP_001341417.1:p.Val15Glu, NP_001341404.1:p.Val15Glu, XP_016869114.1:p.Val15Glu, NP_001341426.1:p.Val15Glu, XP_024302959.1:p.Val15Glu, NP_001341412.1:p.Val15Glu, XP_024302960.1:p.Val15Glu, NP_001341405.1:p.Val15Glu, XP_047277930.1:p.Val15Glu, XP_047277926.1:p.Val15Glu, XP_047277924.1:p.Val15Glu, XP_047277935.1:p.Val15Glu, XP_047277918.1:p.Val15Glu, XP_047277920.1:p.Val15Glu, XP_047277928.1:p.Val15Glu, XP_047277925.1:p.Val15Glu, XP_006716426.1:p.Val15Glu, XP_047277921.1:p.Val15Glu, XP_047277934.1:p.Val15Glu, XP_047277932.1:p.Val15Glu, XP_047277923.1:p.Val15Glu, XP_047277919.1:p.Val15Glu, XP_047277929.1:p.Val15Glu, XP_047277916.1:p.Val15Glu, XP_047277922.1:p.Val15Glu, XP_047277927.1:p.Val15Glu, XP_047277917.1:p.Val15Glu, XP_047277931.1:p.Val15Glu, XP_047277933.1:p.Val15Glu, XP_024302958.1:p.Val15Glu

Select item 145885556420.

rs1458855564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:19458436 (GRCh38)
8:19315947 (GRCh37)
Canonical SPDI:: NC_000008.11:19458435:G:A,NC_000008.11:19458435:G:T
Gene:: CSGALNACT1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.19458436G>A, NC_000008.11:g.19458436G>T, NC_000008.10:g.19315947G>A, NC_000008.10:g.19315947G>T, NM_018371.5:c.841C>T, NM_018371.5:c.841C>A, NM_018371.4:c.841C>T, NM_018371.4:c.841C>A, XM_011544585.4:c.97C>T, XM_011544585.4:c.97C>A, XM_011544585.3:c.97C>T, XM_011544585.3:c.97C>A, XM_011544585.2:c.97C>T, XM_011544585.2:c.97C>A, XM_011544585.1:c.97C>T, XM_011544585.1:c.97C>A, XM_006716360.4:c.841C>T, XM_006716360.4:c.841C>A, XM_006716360.3:c.841C>T, XM_006716360.3:c.841C>A, XM_006716360.2:c.841C>T, XM_006716360.2:c.841C>A, XM_006716360.1:c.841C>T, XM_006716360.1:c.841C>A, XM_006716364.4:c.841C>T, XM_006716364.4:c.841C>A, XM_006716364.3:c.841C>T, XM_006716364.3:c.841C>A, XM_006716364.2:c.841C>T, XM_006716364.2:c.841C>A, XM_006716364.1:c.841C>T, XM_006716364.1:c.841C>A, XM_011544578.3:c.841C>T, XM_011544578.3:c.841C>A, XM_011544578.2:c.841C>T, XM_011544578.2:c.841C>A, XM_011544578.1:c.841C>T, XM_011544578.1:c.841C>A, NR_024040.3:n.1298C>T, NR_024040.3:n.1298C>A, NR_024040.2:n.1298C>T, NR_024040.2:n.1298C>A, NR_024040.1:n.1287C>T, NR_024040.1:n.1287C>A, XM_017013638.2:c.841C>T, XM_017013638.2:c.841C>A, XM_017013638.1:c.841C>T, XM_017013638.1:c.841C>A, NR_148902.2:n.1625C>T, NR_148902.2:n.1625C>A, NR_148902.1:n.1941C>T, NR_148902.1:n.1941C>A, NM_001354490.2:c.841C>T, NM_001354490.2:c.841C>A, NM_001354490.1:c.841C>T, NM_001354490.1:c.841C>A, NR_148901.2:n.1470C>T, NR_148901.2:n.1470C>A, NR_148901.1:n.1786C>T, NR_148901.1:n.1786C>A, NM_001354491.2:c.841C>T, NM_001354491.2:c.841C>A, NM_001354491.1:c.841C>T, NM_001354491.1:c.841C>A, XM_024447193.2:c.841C>T, XM_024447193.2:c.841C>A, XM_024447193.1:c.841C>T, XM_024447193.1:c.841C>A, NM_001354499.2:c.841C>T, NM_001354499.2:c.841C>A, NM_001354499.1:c.841C>T, NM_001354499.1:c.841C>A, NM_001354495.2:c.841C>T, NM_001354495.2:c.841C>A, NM_001354495.1:c.841C>T, NM_001354495.1:c.841C>A, NM_001354496.2:c.841C>T, NM_001354496.2:c.841C>A, NM_001354496.1:c.841C>T, NM_001354496.1:c.841C>A, NM_001354494.2:c.841C>T, NM_001354494.2:c.841C>A, NM_001354494.1:c.841C>T, NM_001354494.1:c.841C>A, NR_148899.2:n.1324C>T, NR_148899.2:n.1324C>A, NR_148899.1:n.1353C>T, NR_148899.1:n.1353C>A, NM_001354480.2:c.841C>T, NM_001354480.2:c.841C>A, NM_001354480.1:c.841C>T, NM_001354480.1:c.841C>A, XM_011544583.2:c.841C>T, XM_011544583.2:c.841C>A, XM_011544583.1:c.841C>T, XM_011544583.1:c.841C>A, NM_001130518.2:c.841C>T, NM_001130518.2:c.841C>A, NM_001130518.1:c.841C>T, NM_001130518.1:c.841C>A, NR_148898.2:n.1291C>T, NR_148898.2:n.1291C>A, NR_148898.1:n.1412C>T, NR_148898.1:n.1412C>A, NM_001354498.2:c.841C>T, NM_001354498.2:c.841C>A, NM_001354498.1:c.841C>T, NM_001354498.1:c.841C>A, NR_148900.2:n.1324C>T, NR_148900.2:n.1324C>A, NR_148900.1:n.1353C>T, NR_148900.1:n.1353C>A, NM_001354487.2:c.841C>T, NM_001354487.2:c.841C>A, NM_001354487.1:c.841C>T, NM_001354487.1:c.841C>A, NM_001354485.2:c.841C>T, NM_001354485.2:c.841C>A, NM_001354485.1:c.841C>T, NM_001354485.1:c.841C>A, NM_001354489.2:c.841C>T, NM_001354489.2:c.841C>A, NM_001354489.1:c.841C>T, NM_001354489.1:c.841C>A, NM_001354492.2:c.841C>T, NM_001354492.2:c.841C>A, NM_001354492.1:c.841C>T, NM_001354492.1:c.841C>A, NM_001354484.2:c.841C>T, NM_001354484.2:c.841C>A, NM_001354484.1:c.841C>T, NM_001354484.1:c.841C>A, NM_001354481.2:c.841C>T, NM_001354481.2:c.841C>A, NM_001354481.1:c.841C>T, NM_001354481.1:c.841C>A, NM_001354477.2:c.841C>T, NM_001354477.2:c.841C>A, NM_001354477.1:c.841C>T, NM_001354477.1:c.841C>A, NM_001354488.2:c.841C>T, NM_001354488.2:c.841C>A, NM_001354488.1:c.841C>T, NM_001354488.1:c.841C>A, NM_001354475.2:c.841C>T, NM_001354475.2:c.841C>A, NM_001354475.1:c.841C>T, NM_001354475.1:c.841C>A, XM_017013625.2:c.841C>T, XM_017013625.2:c.841C>A, XM_017013625.1:c.841C>T, XM_017013625.1:c.841C>A, NM_001354497.2:c.841C>T, NM_001354497.2:c.841C>A, NM_001354497.1:c.841C>T, NM_001354497.1:c.841C>A, NR_148897.2:n.1370C>T, NR_148897.2:n.1370C>A, NR_148897.1:n.1491C>T, NR_148897.1:n.1491C>A, XM_024447191.2:c.841C>T, XM_024447191.2:c.841C>A, XM_024447191.1:c.841C>T, XM_024447191.1:c.841C>A, NM_001354483.2:c.841C>T, NM_001354483.2:c.841C>A, NM_001354483.1:c.841C>T, NM_001354483.1:c.841C>A, XM_024447192.2:c.841C>T, XM_024447192.2:c.841C>A, XM_024447192.1:c.841C>T, XM_024447192.1:c.841C>A, NM_001354476.2:c.841C>T, NM_001354476.2:c.841C>A, NM_001354476.1:c.841C>T, NM_001354476.1:c.841C>A, XM_047421974.1:c.841C>T, XM_047421974.1:c.841C>A, XM_047421970.1:c.841C>T, XM_047421970.1:c.841C>A, XM_047421968.1:c.841C>T, XM_047421968.1:c.841C>A, XM_047421979.1:c.841C>T, XM_047421979.1:c.841C>A, XM_047421962.1:c.841C>T, XM_047421962.1:c.841C>A, XM_047421964.1:c.841C>T, XM_047421964.1:c.841C>A, XM_047421972.1:c.841C>T, XM_047421972.1:c.841C>A, XM_047421969.1:c.841C>T, XM_047421969.1:c.841C>A, XM_006716363.1:c.841C>T, XM_006716363.1:c.841C>A, XM_047421965.1:c.841C>T, XM_047421965.1:c.841C>A, XM_047421978.1:c.841C>T, XM_047421978.1:c.841C>A, XM_047421976.1:c.841C>T, XM_047421976.1:c.841C>A, XM_047421967.1:c.841C>T, XM_047421967.1:c.841C>A, XM_047421963.1:c.841C>T, XM_047421963.1:c.841C>A, XM_047421973.1:c.841C>T, XM_047421973.1:c.841C>A, XM_047421960.1:c.841C>T, XM_047421960.1:c.841C>A, XM_047421966.1:c.841C>T, XM_047421966.1:c.841C>A, XM_047421971.1:c.841C>T, XM_047421971.1:c.841C>A, XM_047421961.1:c.841C>T, XM_047421961.1:c.841C>A, XM_047421975.1:c.841C>T, XM_047421975.1:c.841C>A, XM_047421977.1:c.841C>T, XM_047421977.1:c.841C>A, XM_024447190.1:c.841C>T, XM_024447190.1:c.841C>A, XR_007060745.1:n.1470C>T, XR_007060745.1:n.1470C>A, NP_060841.5:p.Gln281Ter, NP_060841.5:p.Gln281Lys, XP_011542887.1:p.Gln33Ter, XP_011542887.1:p.Gln33Lys, XP_006716423.1:p.Gln281Ter, XP_006716423.1:p.Gln281Lys, XP_006716427.1:p.Gln281Ter, XP_006716427.1:p.Gln281Lys, XP_011542880.1:p.Gln281Ter, XP_011542880.1:p.Gln281Lys, XP_016869127.1:p.Gln281Ter, XP_016869127.1:p.Gln281Lys, NP_001341419.1:p.Gln281Ter, NP_001341419.1:p.Gln281Lys, NP_001341420.1:p.Gln281Ter, NP_001341420.1:p.Gln281Lys, XP_024302961.1:p.Gln281Ter, XP_024302961.1:p.Gln281Lys, NP_001341428.1:p.Gln281Ter, NP_001341428.1:p.Gln281Lys, NP_001341424.1:p.Gln281Ter, NP_001341424.1:p.Gln281Lys, NP_001341425.1:p.Gln281Ter, NP_001341425.1:p.Gln281Lys, NP_001341423.1:p.Gln281Ter, NP_001341423.1:p.Gln281Lys, NP_001341409.1:p.Gln281Ter, NP_001341409.1:p.Gln281Lys, XP_011542885.1:p.Gln281Ter, XP_011542885.1:p.Gln281Lys, NP_001123990.1:p.Gln281Ter, NP_001123990.1:p.Gln281Lys, NP_001341427.1:p.Gln281Ter, NP_001341427.1:p.Gln281Lys, NP_001341416.1:p.Gln281Ter, NP_001341416.1:p.Gln281Lys, NP_001341414.1:p.Gln281Ter, NP_001341414.1:p.Gln281Lys, NP_001341418.1:p.Gln281Ter, NP_001341418.1:p.Gln281Lys, NP_001341421.1:p.Gln281Ter, NP_001341421.1:p.Gln281Lys, NP_001341413.1:p.Gln281Ter, NP_001341413.1:p.Gln281Lys, NP_001341410.1:p.Gln281Ter, NP_001341410.1:p.Gln281Lys, NP_001341406.1:p.Gln281Ter, NP_001341406.1:p.Gln281Lys, NP_001341417.1:p.Gln281Ter, NP_001341417.1:p.Gln281Lys, NP_001341404.1:p.Gln281Ter, NP_001341404.1:p.Gln281Lys, XP_016869114.1:p.Gln281Ter, XP_016869114.1:p.Gln281Lys, NP_001341426.1:p.Gln281Ter, NP_001341426.1:p.Gln281Lys, XP_024302959.1:p.Gln281Ter, XP_024302959.1:p.Gln281Lys, NP_001341412.1:p.Gln281Ter, NP_001341412.1:p.Gln281Lys, XP_024302960.1:p.Gln281Ter, XP_024302960.1:p.Gln281Lys, NP_001341405.1:p.Gln281Ter, NP_001341405.1:p.Gln281Lys, XP_047277930.1:p.Gln281Ter, XP_047277930.1:p.Gln281Lys, XP_047277926.1:p.Gln281Ter, XP_047277926.1:p.Gln281Lys, XP_047277924.1:p.Gln281Ter, XP_047277924.1:p.Gln281Lys, XP_047277935.1:p.Gln281Ter, XP_047277935.1:p.Gln281Lys, XP_047277918.1:p.Gln281Ter, XP_047277918.1:p.Gln281Lys, XP_047277920.1:p.Gln281Ter, XP_047277920.1:p.Gln281Lys, XP_047277928.1:p.Gln281Ter, XP_047277928.1:p.Gln281Lys, XP_047277925.1:p.Gln281Ter, XP_047277925.1:p.Gln281Lys, XP_006716426.1:p.Gln281Ter, XP_006716426.1:p.Gln281Lys, XP_047277921.1:p.Gln281Ter, XP_047277921.1:p.Gln281Lys, XP_047277934.1:p.Gln281Ter, XP_047277934.1:p.Gln281Lys, XP_047277932.1:p.Gln281Ter, XP_047277932.1:p.Gln281Lys, XP_047277923.1:p.Gln281Ter, XP_047277923.1:p.Gln281Lys, XP_047277919.1:p.Gln281Ter, XP_047277919.1:p.Gln281Lys, XP_047277929.1:p.Gln281Ter, XP_047277929.1:p.Gln281Lys, XP_047277916.1:p.Gln281Ter, XP_047277916.1:p.Gln281Lys, XP_047277922.1:p.Gln281Ter, XP_047277922.1:p.Gln281Lys, XP_047277927.1:p.Gln281Ter, XP_047277927.1:p.Gln281Lys, XP_047277917.1:p.Gln281Ter, XP_047277917.1:p.Gln281Lys, XP_047277931.1:p.Gln281Ter, XP_047277931.1:p.Gln281Lys, XP_047277933.1:p.Gln281Ter, XP_047277933.1:p.Gln281Lys, XP_024302958.1:p.Gln281Ter, XP_024302958.1:p.Gln281Lys

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dbSNP

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