SNP Links for Protein (Select 45827806) - SNP

Links from Protein

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Select item 14908415541.

rs1490841554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:63631287 (GRCh38)
11:63398759 (GRCh37)
Canonical SPDI:: NC_000011.10:63631286:T:C,NC_000011.10:63631286:T:G
Gene:: ATL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.63631287T>C, NC_000011.10:g.63631287T>G, NC_000011.9:g.63398759T>C, NC_000011.9:g.63398759T>G, NG_033985.1:g.45688A>G, NG_033985.1:g.45688A>C, NM_015459.5:c.1292A>G, NM_015459.5:c.1292A>C, NM_015459.4:c.1292A>G, NM_015459.4:c.1292A>C, NM_015459.3:c.1292A>G, NM_015459.3:c.1292A>C, NM_001290048.2:c.1238A>G, NM_001290048.2:c.1238A>C, NM_001290048.1:c.1238A>G, NM_001290048.1:c.1238A>C, XM_006718493.2:c.1235A>G, XM_006718493.2:c.1235A>C, XM_006718493.1:c.1235A>G, XM_006718493.1:c.1235A>C, XM_047426725.1:c.1448A>G, XM_047426725.1:c.1448A>C, NP_056274.3:p.His431Arg, NP_056274.3:p.His431Pro, NP_001276977.1:p.His413Arg, NP_001276977.1:p.His413Pro, XP_006718556.1:p.His412Arg, XP_006718556.1:p.His412Pro, XP_047282681.1:p.His483Arg, XP_047282681.1:p.His483Pro

Select item 14902138922.

rs1490213892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:63658904 (GRCh38)
11:63426376 (GRCh37)
Canonical SPDI:: NC_000011.10:63658903:T:A
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63658904T>A, NC_000011.9:g.63426376T>A, NG_033985.1:g.18071A>T, NM_015459.5:c.262A>T, NM_015459.4:c.262A>T, NM_015459.3:c.262A>T, NM_001290048.2:c.208A>T, NM_001290048.1:c.208A>T, XM_006718493.2:c.262A>T, XM_006718493.1:c.262A>T, XM_047426725.1:c.418A>T, NP_056274.3:p.Lys88Ter, NP_001276977.1:p.Lys70Ter, XP_006718556.1:p.Lys88Ter, XP_047282681.1:p.Lys140Ter

Select item 14895931993.

rs1489593199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63636276 (GRCh38)
11:63403748 (GRCh37)
Canonical SPDI:: NC_000011.10:63636275:T:C
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000048/12 (GnomAD_exomes)
C=0.000098/26 (TOPMED)
C=0.000171/24 (GnomAD)
HGVS:: NC_000011.10:g.63636276T>C, NC_000011.9:g.63403748T>C, NG_033985.1:g.40699A>G, NM_015459.5:c.909A>G, NM_015459.4:c.909A>G, NM_015459.3:c.909A>G, NM_001290048.2:c.855A>G, NM_001290048.1:c.855A>G, XM_006718493.2:c.852A>G, XM_006718493.1:c.852A>G, XM_047426725.1:c.1065A>G

Select item 14875065394.

rs1487506539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTG>- [Show Flanks]
Chromosome:: 11:63659156 (GRCh38)
11:63426628 (GRCh37)
Canonical SPDI:: NC_000011.10:63659153:TGCTG:TG
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: TG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63659156_63659158del, NC_000011.9:g.63426628_63426630del, NG_033985.1:g.17819_17821del, NM_015459.5:c.143_145del, NM_015459.4:c.143_145del, NM_015459.3:c.143_145del, NM_001290048.2:c.89_91del, NM_001290048.1:c.89_91del, XM_006718493.2:c.143_145del, XM_006718493.1:c.143_145del, XM_047426725.1:c.299_301del, NP_056274.3:p.Ser48del, NP_001276977.1:p.Ser30del, XP_006718556.1:p.Ser48del, XP_047282681.1:p.Ser100del

Select item 14858929395.

rs1485892939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63671298 (GRCh38)
11:63438770 (GRCh37)
Canonical SPDI:: NC_000011.10:63671297:C:T
Gene:: ATL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63671298C>T, NC_000011.9:g.63438770C>T, NG_033985.1:g.5677G>A, NM_015459.5:c.38G>A, NM_015459.4:c.38G>A, NM_015459.3:c.38G>A, XM_006718493.2:c.38G>A, XM_006718493.1:c.38G>A, XM_047426725.1:c.194G>A, NP_056274.3:p.Arg13Lys, XP_006718556.1:p.Arg13Lys, XP_047282681.1:p.Arg65Lys

Select item 14819673276.

rs1481967327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63631306 (GRCh38)
11:63398778 (GRCh37)
Canonical SPDI:: NC_000011.10:63631305:A:G
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.63631306A>G, NC_000011.9:g.63398778A>G, NG_033985.1:g.45669T>C, NM_015459.5:c.1273T>C, NM_015459.4:c.1273T>C, NM_015459.3:c.1273T>C, NM_001290048.2:c.1219T>C, NM_001290048.1:c.1219T>C, XM_006718493.2:c.1216T>C, XM_006718493.1:c.1216T>C, XM_047426725.1:c.1429T>C, NP_056274.3:p.Tyr425His, NP_001276977.1:p.Tyr407His, XP_006718556.1:p.Tyr406His, XP_047282681.1:p.Tyr477His

Select item 14811145617.

rs1481114561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:63659241 (GRCh38)
11:63426713 (GRCh37)
Canonical SPDI:: NC_000011.10:63659240:C:A,NC_000011.10:63659240:C:T
Gene:: ATL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.63659241C>A, NC_000011.10:g.63659241C>T, NC_000011.9:g.63426713C>A, NC_000011.9:g.63426713C>T, NG_033985.1:g.17734G>T, NG_033985.1:g.17734G>A, NM_015459.5:c.58G>T, NM_015459.5:c.58G>A, NM_015459.4:c.58G>T, NM_015459.4:c.58G>A, NM_015459.3:c.58G>T, NM_015459.3:c.58G>A, NM_001290048.2:c.4G>T, NM_001290048.2:c.4G>A, NM_001290048.1:c.4G>T, NM_001290048.1:c.4G>A, XM_006718493.2:c.58G>T, XM_006718493.2:c.58G>A, XM_006718493.1:c.58G>T, XM_006718493.1:c.58G>A, XM_047426725.1:c.214G>T, XM_047426725.1:c.214G>A, NP_056274.3:p.Glu20Ter, NP_056274.3:p.Glu20Lys, NP_001276977.1:p.Glu2Ter, NP_001276977.1:p.Glu2Lys, XP_006718556.1:p.Glu20Ter, XP_006718556.1:p.Glu20Lys, XP_047282681.1:p.Glu72Ter, XP_047282681.1:p.Glu72Lys

Select item 14768691708.

rs1476869170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:63644189 (GRCh38)
11:63411661 (GRCh37)
Canonical SPDI:: NC_000011.10:63644188:A:G,NC_000011.10:63644188:A:T
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
HGVS:: NC_000011.10:g.63644189A>G, NC_000011.10:g.63644189A>T, NC_000011.9:g.63411661A>G, NC_000011.9:g.63411661A>T, NG_033985.1:g.32786T>C, NG_033985.1:g.32786T>A, NM_015459.5:c.691T>C, NM_015459.5:c.691T>A, NM_015459.4:c.691T>C, NM_015459.4:c.691T>A, NM_015459.3:c.691T>C, NM_015459.3:c.691T>A, NM_001290048.2:c.637T>C, NM_001290048.2:c.637T>A, NM_001290048.1:c.637T>C, NM_001290048.1:c.637T>A, XM_006718493.2:c.634T>C, XM_006718493.2:c.634T>A, XM_006718493.1:c.634T>C, XM_006718493.1:c.634T>A, XM_047426725.1:c.847T>C, XM_047426725.1:c.847T>A, NP_056274.3:p.Phe231Leu, NP_056274.3:p.Phe231Ile, NP_001276977.1:p.Phe213Leu, NP_001276977.1:p.Phe213Ile, XP_006718556.1:p.Phe212Leu, XP_006718556.1:p.Phe212Ile, XP_047282681.1:p.Phe283Leu, XP_047282681.1:p.Phe283Ile

Select item 14701213329.

rs1470121332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63631264 (GRCh38)
11:63398736 (GRCh37)
Canonical SPDI:: NC_000011.10:63631263:T:C
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.63631264T>C, NC_000011.9:g.63398736T>C, NG_033985.1:g.45711A>G, NM_015459.5:c.1315A>G, NM_015459.4:c.1315A>G, NM_015459.3:c.1315A>G, NM_001290048.2:c.1261A>G, NM_001290048.1:c.1261A>G, XM_006718493.2:c.1258A>G, XM_006718493.1:c.1258A>G, XM_047426725.1:c.1471A>G, NP_056274.3:p.Ser439Gly, NP_001276977.1:p.Ser421Gly, XP_006718556.1:p.Ser420Gly, XP_047282681.1:p.Ser491Gly

Select item 146959661110.

rs1469596611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:63659230 (GRCh38)
11:63426702 (GRCh37)
Canonical SPDI:: NC_000011.10:63659229:C:G,NC_000011.10:63659229:C:T
Gene:: ATL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00055/1 (Korea1K)
T=0.00137/4 (KOREAN)
HGVS:: NC_000011.10:g.63659230C>G, NC_000011.10:g.63659230C>T, NC_000011.9:g.63426702C>G, NC_000011.9:g.63426702C>T, NG_033985.1:g.17745G>C, NG_033985.1:g.17745G>A, NM_015459.5:c.69G>C, NM_015459.5:c.69G>A, NM_015459.4:c.69G>C, NM_015459.4:c.69G>A, NM_015459.3:c.69G>C, NM_015459.3:c.69G>A, NM_001290048.2:c.15G>C, NM_001290048.2:c.15G>A, NM_001290048.1:c.15G>C, NM_001290048.1:c.15G>A, XM_006718493.2:c.69G>C, XM_006718493.2:c.69G>A, XM_006718493.1:c.69G>C, XM_006718493.1:c.69G>A, XM_047426725.1:c.225G>C, XM_047426725.1:c.225G>A, NP_056274.3:p.Lys23Asn, NP_001276977.1:p.Lys5Asn, XP_006718556.1:p.Lys23Asn, XP_047282681.1:p.Lys75Asn

Select item 146932907511.

rs1469329075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63643451 (GRCh38)
11:63410923 (GRCh37)
Canonical SPDI:: NC_000011.10:63643450:G:A
Gene:: ATL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.63643451G>A, NC_000011.9:g.63410923G>A, NG_033985.1:g.33524C>T, NM_015459.5:c.756C>T, NM_015459.4:c.756C>T, NM_015459.3:c.756C>T, NM_001290048.2:c.702C>T, NM_001290048.1:c.702C>T, XM_006718493.2:c.699C>T, XM_006718493.1:c.699C>T, XM_047426725.1:c.912C>T

Select item 146415366912.

rs1464153669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63631433 (GRCh38)
11:63398905 (GRCh37)
Canonical SPDI:: NC_000011.10:63631432:A:G
Gene:: ATL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63631433A>G, NC_000011.9:g.63398905A>G, NG_033985.1:g.45542T>C, NM_015459.5:c.1146T>C, NM_015459.4:c.1146T>C, NM_015459.3:c.1146T>C, NM_001290048.2:c.1092T>C, NM_001290048.1:c.1092T>C, XM_006718493.2:c.1089T>C, XM_006718493.1:c.1089T>C, XM_047426725.1:c.1302T>C

Select item 146384637413.

rs1463846374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:63631201 (GRCh38)
11:63398673 (GRCh37)
Canonical SPDI:: NC_000011.10:63631200:G:A,NC_000011.10:63631200:G:C
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63631201G>A, NC_000011.10:g.63631201G>C, NC_000011.9:g.63398673G>A, NC_000011.9:g.63398673G>C, NG_033985.1:g.45774C>T, NG_033985.1:g.45774C>G, NM_015459.5:c.1378C>T, NM_015459.5:c.1378C>G, NM_015459.4:c.1378C>T, NM_015459.4:c.1378C>G, NM_015459.3:c.1378C>T, NM_015459.3:c.1378C>G, NM_001290048.2:c.1324C>T, NM_001290048.2:c.1324C>G, NM_001290048.1:c.1324C>T, NM_001290048.1:c.1324C>G, XM_006718493.2:c.1321C>T, XM_006718493.2:c.1321C>G, XM_006718493.1:c.1321C>T, XM_006718493.1:c.1321C>G, XM_047426725.1:c.1534C>T, XM_047426725.1:c.1534C>G, NP_056274.3:p.Leu460Phe, NP_056274.3:p.Leu460Val, NP_001276977.1:p.Leu442Phe, NP_001276977.1:p.Leu442Val, XP_006718556.1:p.Leu441Phe, XP_006718556.1:p.Leu441Val, XP_047282681.1:p.Leu512Phe, XP_047282681.1:p.Leu512Val

Select item 146231525214.

rs1462315252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63659247 (GRCh38)
11:63426719 (GRCh37)
Canonical SPDI:: NC_000011.10:63659246:C:T
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63659247C>T, NC_000011.9:g.63426719C>T, NG_033985.1:g.17728G>A, NM_015459.5:c.52G>A, NM_015459.4:c.52G>A, NM_015459.3:c.52G>A, NM_001290048.2:c.-3G>A, NM_001290048.1:c.-3G>A, XM_006718493.2:c.52G>A, XM_006718493.1:c.52G>A, XM_047426725.1:c.208G>A, NP_056274.3:p.Ala18Thr, XP_006718556.1:p.Ala18Thr, XP_047282681.1:p.Ala70Thr

Select item 145903496415.

rs1459034964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63644220 (GRCh38)
11:63411692 (GRCh37)
Canonical SPDI:: NC_000011.10:63644219:T:C
Gene:: ATL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.63644220T>C, NC_000011.9:g.63411692T>C, NG_033985.1:g.32755A>G, NM_015459.5:c.660A>G, NM_015459.4:c.660A>G, NM_015459.3:c.660A>G, NM_001290048.2:c.606A>G, NM_001290048.1:c.606A>G, XM_006718493.2:c.603A>G, XM_006718493.1:c.603A>G, XM_047426725.1:c.816A>G

Select item 145872146316.

rs1458721463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:63631399 (GRCh38)
11:63398871 (GRCh37)
Canonical SPDI:: NC_000011.10:63631398:C:A,NC_000011.10:63631398:C:T
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.63631399C>A, NC_000011.10:g.63631399C>T, NC_000011.9:g.63398871C>A, NC_000011.9:g.63398871C>T, NG_033985.1:g.45576G>T, NG_033985.1:g.45576G>A, NM_015459.5:c.1180G>T, NM_015459.5:c.1180G>A, NM_015459.4:c.1180G>T, NM_015459.4:c.1180G>A, NM_015459.3:c.1180G>T, NM_015459.3:c.1180G>A, NM_001290048.2:c.1126G>T, NM_001290048.2:c.1126G>A, NM_001290048.1:c.1126G>T, NM_001290048.1:c.1126G>A, XM_006718493.2:c.1123G>T, XM_006718493.2:c.1123G>A, XM_006718493.1:c.1123G>T, XM_006718493.1:c.1123G>A, XM_047426725.1:c.1336G>T, XM_047426725.1:c.1336G>A, NP_056274.3:p.Ala394Ser, NP_056274.3:p.Ala394Thr, NP_001276977.1:p.Ala376Ser, NP_001276977.1:p.Ala376Thr, XP_006718556.1:p.Ala375Ser, XP_006718556.1:p.Ala375Thr, XP_047282681.1:p.Ala446Ser, XP_047282681.1:p.Ala446Thr

Select item 145828048517.

rs1458280485 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 11:63635568 (GRCh38)
11:63403040 (GRCh37)
Canonical SPDI:: NC_000011.10:63635565:CTCCT:CT
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63635568_63635570del, NC_000011.9:g.63403040_63403042del, NG_033985.1:g.41407_41409del, NM_015459.5:c.1001_1003del, NM_015459.4:c.1001_1003del, NM_015459.3:c.1001_1003del, NM_001290048.2:c.947_949del, NM_001290048.1:c.947_949del, XM_006718493.2:c.944_946del, XM_006718493.1:c.944_946del, XM_047426725.1:c.1157_1159del, NP_056274.3:p.Gly334del, NP_001276977.1:p.Gly316del, XP_006718556.1:p.Gly315del, XP_047282681.1:p.Gly386del

Select item 145617774618.

rs1456177746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63636304 (GRCh38)
11:63403776 (GRCh37)
Canonical SPDI:: NC_000011.10:63636303:T:C
Gene:: ATL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63636304T>C, NC_000011.9:g.63403776T>C, NG_033985.1:g.40671A>G, NM_015459.5:c.881A>G, NM_015459.4:c.881A>G, NM_015459.3:c.881A>G, NM_001290048.2:c.827A>G, NM_001290048.1:c.827A>G, XM_006718493.2:c.824A>G, XM_006718493.1:c.824A>G, XM_047426725.1:c.1037A>G, NP_056274.3:p.Gln294Arg, NP_001276977.1:p.Gln276Arg, XP_006718556.1:p.Gln275Arg, XP_047282681.1:p.Gln346Arg

Select item 145542254419.

rs1455422544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:63652517 (GRCh38)
11:63419989 (GRCh37)
Canonical SPDI:: NC_000011.10:63652516:T:A
Gene:: ATL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63652517T>A, NC_000011.9:g.63419989T>A, NG_033985.1:g.24458A>T, NM_015459.5:c.464A>T, NM_015459.4:c.464A>T, NM_015459.3:c.464A>T, NM_001290048.2:c.410A>T, NM_001290048.1:c.410A>T, XM_006718493.2:c.464A>T, XM_006718493.1:c.464A>T, XM_047426725.1:c.620A>T, NP_056274.3:p.Asp155Val, NP_001276977.1:p.Asp137Val, XP_006718556.1:p.Asp155Val, XP_047282681.1:p.Asp207Val

Select item 145537455420.

rs1455374554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63671320 (GRCh38)
11:63438792 (GRCh37)
Canonical SPDI:: NC_000011.10:63671319:G:A
Gene:: ATL3 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000011.10:g.63671320G>A, NC_000011.9:g.63438792G>A, NG_033985.1:g.5655C>T, NM_015459.5:c.16C>T, NM_015459.4:c.16C>T, NM_015459.3:c.16C>T, XM_006718493.2:c.16C>T, XM_006718493.1:c.16C>T, XM_047426725.1:c.172C>T, NP_056274.3:p.Arg6Ter, XP_006718556.1:p.Arg6Ter, XP_047282681.1:p.Arg58Ter

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