SNP Links for Protein (Select 50234889) - SNP

Links from Protein

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Select item 14835794441.

rs1483579444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129091270 (GRCh38)
3:128810113 (GRCh37)
Canonical SPDI:: NC_000003.12:129091269:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129091270G>A, NC_000003.11:g.128810113G>A, NM_198490.3:c.465C>T, NM_198490.2:c.465C>T, NM_001204890.2:c.*116C>T, NM_001204890.1:c.*116C>T, NM_001204887.2:c.*91C>T, NM_001204887.1:c.*91C>T, NM_001204888.2:c.*124C>T, NM_001204888.1:c.*124C>T, NM_001204886.2:c.465C>T, NM_001204886.1:c.465C>T, NM_001204883.2:c.465C>T, NM_001204883.1:c.465C>T, NM_001204884.2:c.465C>T, NM_001204884.1:c.465C>T, NM_001204885.1:c.465C>T

Select item 14829310422.

rs1482931042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129121405 (GRCh38)
3:128840248 (GRCh37)
Canonical SPDI:: NC_000003.12:129121404:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129121405C>T, NC_000003.11:g.128840248C>T, NM_198490.3:c.85G>A, NM_198490.2:c.85G>A, NM_001204887.2:c.85G>A, NM_001204887.1:c.85G>A, NM_001204888.2:c.85G>A, NM_001204888.1:c.85G>A, NM_001204886.2:c.85G>A, NM_001204886.1:c.85G>A, NM_001204883.2:c.85G>A, NM_001204883.1:c.85G>A, NM_001204884.2:c.85G>A, NM_001204884.1:c.85G>A, NM_001204885.1:c.85G>A, NP_940892.1:p.Val29Met, NP_001191816.1:p.Val29Met, NP_001191817.1:p.Val29Met, NP_001191815.1:p.Val29Met, NP_001191812.1:p.Val29Met, NP_001191813.1:p.Val29Met, NP_001191814.1:p.Val29Met

Select item 14813297413.

rs1481329741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129121482 (GRCh38)
3:128840325 (GRCh37)
Canonical SPDI:: NC_000003.12:129121481:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129121482C>T, NC_000003.11:g.128840325C>T, NM_198490.3:c.8G>A, NM_198490.2:c.8G>A, NM_001204887.2:c.8G>A, NM_001204887.1:c.8G>A, NM_001204888.2:c.8G>A, NM_001204888.1:c.8G>A, NM_001204886.2:c.8G>A, NM_001204886.1:c.8G>A, NM_001204883.2:c.8G>A, NM_001204883.1:c.8G>A, NM_001204884.2:c.8G>A, NM_001204884.1:c.8G>A, NM_001204885.1:c.8G>A, NP_940892.1:p.Gly3Glu, NP_001191816.1:p.Gly3Glu, NP_001191817.1:p.Gly3Glu, NP_001191815.1:p.Gly3Glu, NP_001191812.1:p.Gly3Glu, NP_001191813.1:p.Gly3Glu, NP_001191814.1:p.Gly3Glu

Select item 14750592974.

rs1475059297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129091291 (GRCh38)
3:128810134 (GRCh37)
Canonical SPDI:: NC_000003.12:129091290:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129091291G>A, NC_000003.11:g.128810134G>A, NM_198490.3:c.444C>T, NM_198490.2:c.444C>T, NM_001204890.2:c.*95C>T, NM_001204890.1:c.*95C>T, NM_001204887.2:c.*70C>T, NM_001204887.1:c.*70C>T, NM_001204888.2:c.*103C>T, NM_001204888.1:c.*103C>T, NM_001204886.2:c.444C>T, NM_001204886.1:c.444C>T, NM_001204883.2:c.444C>T, NM_001204883.1:c.444C>T, NM_001204884.2:c.444C>T, NM_001204884.1:c.444C>T, NM_001204885.1:c.444C>T

Select item 14729726095.

rs1472972609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:129091187 (GRCh38)
3:128810030 (GRCh37)
Canonical SPDI:: NC_000003.12:129091186:C:A,NC_000003.12:129091186:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129091187C>A, NC_000003.12:g.129091187C>T, NC_000003.11:g.128810030C>A, NC_000003.11:g.128810030C>T, NM_198490.3:c.548G>T, NM_198490.3:c.548G>A, NM_198490.2:c.548G>T, NM_198490.2:c.548G>A, NM_001204890.2:c.*199G>T, NM_001204890.2:c.*199G>A, NM_001204890.1:c.*199G>T, NM_001204890.1:c.*199G>A, NM_001204887.2:c.*174G>T, NM_001204887.2:c.*174G>A, NM_001204887.1:c.*174G>T, NM_001204887.1:c.*174G>A, NM_001204888.2:c.*207G>T, NM_001204888.2:c.*207G>A, NM_001204888.1:c.*207G>T, NM_001204888.1:c.*207G>A, NM_001204886.2:c.548G>T, NM_001204886.2:c.548G>A, NM_001204886.1:c.548G>T, NM_001204886.1:c.548G>A, NM_001204883.2:c.548G>T, NM_001204883.2:c.548G>A, NM_001204883.1:c.548G>T, NM_001204883.1:c.548G>A, NM_001204884.2:c.548G>T, NM_001204884.2:c.548G>A, NM_001204884.1:c.548G>T, NM_001204884.1:c.548G>A, NM_001204885.1:c.548G>T, NM_001204885.1:c.548G>A, NP_940892.1:p.Arg183Leu, NP_940892.1:p.Arg183Gln, NP_001191815.1:p.Arg183Leu, NP_001191815.1:p.Arg183Gln, NP_001191812.1:p.Arg183Leu, NP_001191812.1:p.Arg183Gln, NP_001191813.1:p.Arg183Leu, NP_001191813.1:p.Arg183Gln, NP_001191814.1:p.Arg183Leu, NP_001191814.1:p.Arg183Gln

Select item 14728385096.

rs1472838509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129095113 (GRCh38)
3:128813956 (GRCh37)
Canonical SPDI:: NC_000003.12:129095112:G:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129095113G>T, NC_000003.11:g.128813956G>T, NM_198490.3:c.261C>A, NM_198490.2:c.261C>A, NM_001204890.2:c.908C>A, NM_001204890.1:c.908C>A, NM_001204887.2:c.261C>A, NM_001204887.1:c.261C>A, NM_001204888.2:c.247C>A, NM_001204888.1:c.247C>A, NM_001204886.2:c.261C>A, NM_001204886.1:c.261C>A, NM_001204883.2:c.261C>A, NM_001204883.1:c.261C>A, NM_001204884.2:c.261C>A, NM_001204884.1:c.261C>A, NM_001204885.1:c.261C>A, NP_940892.1:p.Tyr87Ter, NP_001191819.1:p.Thr303Asn, NP_001191816.1:p.Tyr87Ter, NP_001191817.1:p.Leu83Ile, NP_001191815.1:p.Tyr87Ter, NP_001191812.1:p.Tyr87Ter, NP_001191813.1:p.Tyr87Ter, NP_001191814.1:p.Tyr87Ter

Select item 14694792007.

rs1469479200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129121431 (GRCh38)
3:128840274 (GRCh37)
Canonical SPDI:: NC_000003.12:129121430:T:C
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129121431T>C, NC_000003.11:g.128840274T>C, NM_198490.3:c.59A>G, NM_198490.2:c.59A>G, NM_001204887.2:c.59A>G, NM_001204887.1:c.59A>G, NM_001204888.2:c.59A>G, NM_001204888.1:c.59A>G, NM_001204886.2:c.59A>G, NM_001204886.1:c.59A>G, NM_001204883.2:c.59A>G, NM_001204883.1:c.59A>G, NM_001204884.2:c.59A>G, NM_001204884.1:c.59A>G, NM_001204885.1:c.59A>G, NP_940892.1:p.Lys20Arg, NP_001191816.1:p.Lys20Arg, NP_001191817.1:p.Lys20Arg, NP_001191815.1:p.Lys20Arg, NP_001191812.1:p.Lys20Arg, NP_001191813.1:p.Lys20Arg, NP_001191814.1:p.Lys20Arg

Select item 14596880588.

rs1459688058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129121438 (GRCh38)
3:128840281 (GRCh37)
Canonical SPDI:: NC_000003.12:129121437:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129121438G>A, NC_000003.11:g.128840281G>A, NM_198490.3:c.52C>T, NM_198490.2:c.52C>T, NM_001204887.2:c.52C>T, NM_001204887.1:c.52C>T, NM_001204888.2:c.52C>T, NM_001204888.1:c.52C>T, NM_001204886.2:c.52C>T, NM_001204886.1:c.52C>T, NM_001204883.2:c.52C>T, NM_001204883.1:c.52C>T, NM_001204884.2:c.52C>T, NM_001204884.1:c.52C>T, NM_001204885.1:c.52C>T

Select item 14580507629.

rs1458050762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:129095001 (GRCh38)
3:128813844 (GRCh37)
Canonical SPDI:: NC_000003.12:129095000:C:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.129095001C>A, NC_000003.11:g.128813844C>A, NM_198490.3:c.373G>T, NM_198490.2:c.373G>T, NM_001204890.2:c.*24G>T, NM_001204890.1:c.*24G>T, NM_001204887.2:c.373G>T, NM_001204887.1:c.373G>T, NM_001204888.2:c.*32G>T, NM_001204888.1:c.*32G>T, NM_001204886.2:c.373G>T, NM_001204886.1:c.373G>T, NM_001204883.2:c.373G>T, NM_001204883.1:c.373G>T, NM_001204884.2:c.373G>T, NM_001204884.1:c.373G>T, NM_001204885.1:c.373G>T, NP_940892.1:p.Val125Leu, NP_001191816.1:p.Val125Leu, NP_001191815.1:p.Val125Leu, NP_001191812.1:p.Val125Leu, NP_001191813.1:p.Val125Leu, NP_001191814.1:p.Val125Leu

Select item 144305257610.

rs1443052576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129121416 (GRCh38)
3:128840259 (GRCh37)
Canonical SPDI:: NC_000003.12:129121415:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129121416C>T, NC_000003.11:g.128840259C>T, NM_198490.3:c.74G>A, NM_198490.2:c.74G>A, NM_001204887.2:c.74G>A, NM_001204887.1:c.74G>A, NM_001204888.2:c.74G>A, NM_001204888.1:c.74G>A, NM_001204886.2:c.74G>A, NM_001204886.1:c.74G>A, NM_001204883.2:c.74G>A, NM_001204883.1:c.74G>A, NM_001204884.2:c.74G>A, NM_001204884.1:c.74G>A, NM_001204885.1:c.74G>A, NP_940892.1:p.Gly25Asp, NP_001191816.1:p.Gly25Asp, NP_001191817.1:p.Gly25Asp, NP_001191815.1:p.Gly25Asp, NP_001191812.1:p.Gly25Asp, NP_001191813.1:p.Gly25Asp, NP_001191814.1:p.Gly25Asp

Select item 142979728911.

rs1429797289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129121433 (GRCh38)
3:128840276 (GRCh37)
Canonical SPDI:: NC_000003.12:129121432:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129121433G>A, NC_000003.11:g.128840276G>A, NM_198490.3:c.57C>T, NM_198490.2:c.57C>T, NM_001204887.2:c.57C>T, NM_001204887.1:c.57C>T, NM_001204888.2:c.57C>T, NM_001204888.1:c.57C>T, NM_001204886.2:c.57C>T, NM_001204886.1:c.57C>T, NM_001204883.2:c.57C>T, NM_001204883.1:c.57C>T, NM_001204884.2:c.57C>T, NM_001204884.1:c.57C>T, NM_001204885.1:c.57C>T

Select item 142811248512.

rs1428112485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129091309 (GRCh38)
3:128810152 (GRCh37)
Canonical SPDI:: NC_000003.12:129091308:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129091309G>A, NC_000003.11:g.128810152G>A, NM_198490.3:c.426C>T, NM_198490.2:c.426C>T, NM_001204890.2:c.*77C>T, NM_001204890.1:c.*77C>T, NM_001204887.2:c.*52C>T, NM_001204887.1:c.*52C>T, NM_001204888.2:c.*85C>T, NM_001204888.1:c.*85C>T, NM_001204886.2:c.426C>T, NM_001204886.1:c.426C>T, NM_001204883.2:c.426C>T, NM_001204883.1:c.426C>T, NM_001204884.2:c.426C>T, NM_001204884.1:c.426C>T, NM_001204885.1:c.426C>T

Select item 142565130413.

rs1425651304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129091294 (GRCh38)
3:128810137 (GRCh37)
Canonical SPDI:: NC_000003.12:129091293:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129091294C>T, NC_000003.11:g.128810137C>T, NM_198490.3:c.441G>A, NM_198490.2:c.441G>A, NM_001204890.2:c.*92G>A, NM_001204890.1:c.*92G>A, NM_001204887.2:c.*67G>A, NM_001204887.1:c.*67G>A, NM_001204888.2:c.*100G>A, NM_001204888.1:c.*100G>A, NM_001204886.2:c.441G>A, NM_001204886.1:c.441G>A, NM_001204883.2:c.441G>A, NM_001204883.1:c.441G>A, NM_001204884.2:c.441G>A, NM_001204884.1:c.441G>A, NM_001204885.1:c.441G>A

Select item 141757590014.

rs1417575900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129095121 (GRCh38)
3:128813964 (GRCh37)
Canonical SPDI:: NC_000003.12:129095120:G:A
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129095121G>A, NC_000003.11:g.128813964G>A, NM_198490.3:c.253C>T, NM_198490.2:c.253C>T, NM_001204890.2:c.900C>T, NM_001204890.1:c.900C>T, NM_001204887.2:c.253C>T, NM_001204887.1:c.253C>T, NM_001204888.2:c.239C>T, NM_001204888.1:c.239C>T, NM_001204886.2:c.253C>T, NM_001204886.1:c.253C>T, NM_001204883.2:c.253C>T, NM_001204883.1:c.253C>T, NM_001204884.2:c.253C>T, NM_001204884.1:c.253C>T, NM_001204885.1:c.253C>T, NP_940892.1:p.Gln85Ter, NP_001191816.1:p.Gln85Ter, NP_001191817.1:p.Pro80Leu, NP_001191815.1:p.Gln85Ter, NP_001191812.1:p.Gln85Ter, NP_001191813.1:p.Gln85Ter, NP_001191814.1:p.Gln85Ter

Select item 141704019315.

rs1417040193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129121444 (GRCh38)
3:128840287 (GRCh37)
Canonical SPDI:: NC_000003.12:129121443:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129121444C>T, NC_000003.11:g.128840287C>T, NM_198490.3:c.46G>A, NM_198490.2:c.46G>A, NM_001204887.2:c.46G>A, NM_001204887.1:c.46G>A, NM_001204888.2:c.46G>A, NM_001204888.1:c.46G>A, NM_001204886.2:c.46G>A, NM_001204886.1:c.46G>A, NM_001204883.2:c.46G>A, NM_001204883.1:c.46G>A, NM_001204884.2:c.46G>A, NM_001204884.1:c.46G>A, NM_001204885.1:c.46G>A, NP_940892.1:p.Asp16Asn, NP_001191816.1:p.Asp16Asn, NP_001191817.1:p.Asp16Asn, NP_001191815.1:p.Asp16Asn, NP_001191812.1:p.Asp16Asn, NP_001191813.1:p.Asp16Asn, NP_001191814.1:p.Asp16Asn

Select item 141700484016.

rs1417004840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129091222 (GRCh38)
3:128810065 (GRCh37)
Canonical SPDI:: NC_000003.12:129091221:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129091222C>T, NC_000003.11:g.128810065C>T, NM_198490.3:c.513G>A, NM_198490.2:c.513G>A, NM_001204890.2:c.*164G>A, NM_001204890.1:c.*164G>A, NM_001204887.2:c.*139G>A, NM_001204887.1:c.*139G>A, NM_001204888.2:c.*172G>A, NM_001204888.1:c.*172G>A, NM_001204886.2:c.513G>A, NM_001204886.1:c.513G>A, NM_001204883.2:c.513G>A, NM_001204883.1:c.513G>A, NM_001204884.2:c.513G>A, NM_001204884.1:c.513G>A, NM_001204885.1:c.513G>A

Select item 141488032717.

rs1414880327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129091212 (GRCh38)
3:128810055 (GRCh37)
Canonical SPDI:: NC_000003.12:129091211:T:C
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_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)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129091212T>C, NC_000003.11:g.128810055T>C, NM_198490.3:c.523A>G, NM_198490.2:c.523A>G, NM_001204890.2:c.*174A>G, NM_001204890.1:c.*174A>G, NM_001204887.2:c.*149A>G, NM_001204887.1:c.*149A>G, NM_001204888.2:c.*182A>G, NM_001204888.1:c.*182A>G, NM_001204886.2:c.523A>G, NM_001204886.1:c.523A>G, NM_001204883.2:c.523A>G, NM_001204883.1:c.523A>G, NM_001204884.2:c.523A>G, NM_001204884.1:c.523A>G, NM_001204885.1:c.523A>G, NP_940892.1:p.Arg175Gly, NP_001191815.1:p.Arg175Gly, NP_001191812.1:p.Arg175Gly, NP_001191813.1:p.Arg175Gly, NP_001191814.1:p.Arg175Gly

Select item 141475644118.

rs1414756441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129091166 (GRCh38)
3:128810009 (GRCh37)
Canonical SPDI:: NC_000003.12:129091165:C:T
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129091166C>T, NC_000003.11:g.128810009C>T, NM_198490.3:c.569G>A, NM_198490.2:c.569G>A, NM_001204890.2:c.*220G>A, NM_001204890.1:c.*220G>A, NM_001204887.2:c.*195G>A, NM_001204887.1:c.*195G>A, NM_001204888.2:c.*228G>A, NM_001204888.1:c.*228G>A, NM_001204886.2:c.569G>A, NM_001204886.1:c.569G>A, NM_001204883.2:c.569G>A, NM_001204883.1:c.569G>A, NM_001204884.2:c.569G>A, NM_001204884.1:c.569G>A, NM_001204885.1:c.569G>A, NP_940892.1:p.Ser190Asn, NP_001191815.1:p.Ser190Asn, NP_001191812.1:p.Ser190Asn, NP_001191813.1:p.Ser190Asn, NP_001191814.1:p.Ser190Asn

Select item 140564264319.

rs1405642643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129095036 (GRCh38)
3:128813879 (GRCh37)
Canonical SPDI:: NC_000003.12:129095035:A:G
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129095036A>G, NC_000003.11:g.128813879A>G, NM_198490.3:c.338T>C, NM_198490.2:c.338T>C, NM_001204890.2:c.985T>C, NM_001204890.1:c.985T>C, NM_001204887.2:c.338T>C, NM_001204887.1:c.338T>C, NM_001204888.2:c.324T>C, NM_001204888.1:c.324T>C, NM_001204886.2:c.338T>C, NM_001204886.1:c.338T>C, NM_001204883.2:c.338T>C, NM_001204883.1:c.338T>C, NM_001204884.2:c.338T>C, NM_001204884.1:c.338T>C, NM_001204885.1:c.338T>C, NP_940892.1:p.Ile113Thr, NP_001191816.1:p.Ile113Thr, NP_001191815.1:p.Ile113Thr, NP_001191812.1:p.Ile113Thr, NP_001191813.1:p.Ile113Thr, NP_001191814.1:p.Ile113Thr

Select item 140021409120.

rs1400214091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:129095163 (GRCh38)
3:128814006 (GRCh37)
Canonical SPDI:: NC_000003.12:129095162:T:G
Gene:: RAB43 (Varview), ISY1-RAB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.129095163T>G, NC_000003.11:g.128814006T>G, NM_198490.3:c.211A>C, NM_198490.2:c.211A>C, NM_001204890.2:c.858A>C, NM_001204890.1:c.858A>C, NM_001204887.2:c.211A>C, NM_001204887.1:c.211A>C, NM_001204888.2:c.197A>C, NM_001204888.1:c.197A>C, NM_001204886.2:c.211A>C, NM_001204886.1:c.211A>C, NM_001204883.2:c.211A>C, NM_001204883.1:c.211A>C, NM_001204884.2:c.211A>C, NM_001204884.1:c.211A>C, NM_001204885.1:c.211A>C, NP_940892.1:p.Ile71Leu, NP_001191819.1:p.Arg286Ser, NP_001191816.1:p.Ile71Leu, NP_001191817.1:p.Asp66Ala, NP_001191815.1:p.Ile71Leu, NP_001191812.1:p.Ile71Leu, NP_001191813.1:p.Ile71Leu, NP_001191814.1:p.Ile71Leu

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