Canonical Allele Identifier: CA7547535
Gene: SLC12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255874
ClinVar RCV Id: RCV000248948 RCV000576385 RCV001512478
dbSNP Id: rs1552311
ExAC: 15:48580713 T / C
gnomAD v2: 15-48580713-T-C
gnomAD v3: 15-48288516-T-C
gnomAD v4: 15-48288516-T-C
MyVariant Identifiers: chr15:g.48580713T>C (hg19) chr15:g.48288516T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48288516T>C , CM000677.2:g.48288516T>C GRCh38
NC_000015.9:g.48580713T>C , CM000677.1:g.48580713T>C GRCh37
NC_000015.8:g.46368005T>C NCBI36
NG_021301.1:g.87216T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.2873T>C ENSP00000508901.1:p.Val958Ala
ENST00000380993.8:c.2873T>C MANE Select ENSP00000370381.3:p.Val958Ala
ENST00000646012.1:c.3011T>C ENSP00000495813.1:p.Val1004Ala
ENST00000647232.1:c.2873T>C ENSP00000493875.1:p.Val958Ala
ENST00000647546.1:c.2873T>C ENSP00000495332.1:p.Val958Ala
ENST00000380993.7:c.2873T>C ENSP00000370381.3:p.Val958Ala
ENST00000396577.7:c.2873T>C ENSP00000379822.3:p.Val958Ala
ENST00000558252.5:n.6996T>C
ENST00000558405.5:c.2873T>C ENSP00000453409.1:p.Val958Ala
ENST00000560692.5:n.7012T>C
NM_000338.2:c.2873T>C NP_000329.2:p.Val958Ala
NM_001184832.1:c.2873T>C NP_001171761.1:p.Val958Ala
XM_005254605.1:c.2969T>C XP_005254662.1:p.Val990Ala
XM_005254606.1:c.2873T>C XP_005254663.1:p.Val958Ala
XM_006720656.1:c.2969T>C XP_006720719.1:p.Val990Ala
XM_005254606.2:c.2873T>C XP_005254663.1:p.Val958Ala
XR_001751523.1:n.1001+1262A>G
NM_000338.3:c.2873T>C MANE Select NP_000329.2:p.Val958Ala
NM_001184832.2:c.2873T>C NP_001171761.1:p.Val958Ala
NM_001384136.1:c.2873T>C NP_001371065.1:p.Val958Ala
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