Canonical Allele Identifier: CA8069652

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319909
• ClinVar RCV Id: RCV000362354 ; RCV000993002
• dbSNP Id: rs147901432
• ExAC: 16:56919276 G / A
• gnomAD v2: 16-56919276-G-A
• gnomAD v3: 16-56885364-G-A
• gnomAD v4: 16-56885364-G-A
• MyVariant Identifiers: chr16:g.56919276G>A (hg19) ; chr16:g.56885364G>A (hg38)
• PubMed: PMID:9734597 ; PMID:11532083 ; PMID:12112667 ; PMID:17329572 ; PMID:17699451 ; PMID:18391953 ; PMID:19420906 ; PMID:21753071 ; PMID:22990302 ; PMID:23698802 ; PMID:25140267

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885364G>A , CM000678.2:g.56885364G>A	GRCh38
NC_000016.9:g.56919276G>A , CM000678.1:g.56919276G>A	GRCh37
NC_000016.8:g.55476777G>A	NCBI36
NG_009386.1:g.25158G>A
NG_009386.2:g.25158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1925G>A MANE Select	ENSP00000456149.2:p.Arg642His
ENST00000262502.5:c.1922G>A	ENSP00000262502.5:p.Arg641His
ENST00000438926.6:c.1925G>A	ENSP00000402152.2:p.Arg642His
ENST00000563236.5:c.1925G>A	ENSP00000456149.1:p.Arg642His
ENST00000566786.5:c.1922G>A	ENSP00000457552.1:p.Arg641His
NM_000339.2:c.1925G>A	NP_000330.2:p.Arg642His
NM_001126107.1:c.1922G>A	NP_001119579.1:p.Arg641His
NM_001126108.1:c.1925G>A	NP_001119580.1:p.Arg642His
XM_005256119.1:c.1922G>A	XP_005256176.1:p.Arg641His
XM_005256119.2:c.1922G>A	XP_005256176.1:p.Arg641His
NM_000339.3:c.1925G>A	NP_000330.3:p.Arg642His
NM_001126107.2:c.1922G>A	NP_001119579.2:p.Arg641His
NM_001126108.2:c.1925G>A MANE Select	NP_001119580.2:p.Arg642His