Canonical Allele Identifier: CA8069396

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 448391
• ClinVar RCV Id: RCV000762972 ; RCV000517680
• dbSNP Id: rs775931992
• ExAC: 16:56912999 C / T
• gnomAD v2: 16-56912999-C-T
• gnomAD v3: 16-56879087-C-T
• gnomAD v4: 16-56879087-C-T
• COSMIC: COSM3421048
• MyVariant Identifiers: chr16:g.56912999C>T (hg19) ; chr16:g.56879087C>T (hg38)
• PubMed: PMID:11168953 ; PMID:17329572 ; PMID:17414160 ; PMID:21415153 ; PMID:23328711

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879087C>T , CM000678.2:g.56879087C>T	GRCh38
NC_000016.9:g.56912999C>T , CM000678.1:g.56912999C>T	GRCh37
NC_000016.8:g.55470500C>T	NCBI36
NG_009386.1:g.18881C>T
NG_009386.2:g.18881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1195C>T MANE Select	ENSP00000456149.2:p.Arg399Cys
ENST00000262502.5:c.1192C>T	ENSP00000262502.5:p.Arg398Cys
ENST00000438926.6:c.1195C>T	ENSP00000402152.2:p.Arg399Cys
ENST00000563236.5:c.1195C>T	ENSP00000456149.1:p.Arg399Cys
ENST00000566786.5:c.1192C>T	ENSP00000457552.1:p.Arg398Cys
NM_000339.2:c.1195C>T	NP_000330.2:p.Arg399Cys
NM_001126107.1:c.1192C>T	NP_001119579.1:p.Arg398Cys
NM_001126108.1:c.1195C>T	NP_001119580.1:p.Arg399Cys
XM_005256119.1:c.1192C>T	XP_005256176.1:p.Arg398Cys
XM_005256119.2:c.1192C>T	XP_005256176.1:p.Arg398Cys
NM_000339.3:c.1195C>T	NP_000330.3:p.Arg399Cys
NM_001126107.2:c.1192C>T	NP_001119579.2:p.Arg398Cys
NM_001126108.2:c.1195C>T MANE Select	NP_001119580.2:p.Arg399Cys