Canonical Allele Identifier: CA8070132

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 417864
• ClinVar RCV Id: RCV000477802 ; RCV000681947 ; RCV002525742
• dbSNP Id: rs202114767
• ExAC: 16:56938314 G / A
• gnomAD v2: 16-56938314-G-A
• gnomAD v3: 16-56904402-G-A
• gnomAD v4: 16-56904402-G-A
• MyVariant Identifiers: chr16:g.56938314G>A (hg19) ; chr16:g.56904402G>A (hg38)
• PubMed: PMID:8528245 ; PMID:12039972 ; PMID:18391953 ; PMID:21415153 ; PMID:22214629

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904402G>A , CM000678.2:g.56904402G>A	GRCh38
NC_000016.9:g.56938314G>A , CM000678.1:g.56938314G>A	GRCh37
NC_000016.8:g.55495815G>A	NCBI36
NG_009386.1:g.44196G>A
NG_009386.2:g.44196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2864G>A MANE Select	ENSP00000456149.2:p.Arg955Gln
ENST00000262502.5:c.2861G>A	ENSP00000262502.5:p.Arg954Gln
ENST00000438926.6:c.2891G>A	ENSP00000402152.2:p.Arg964Gln
ENST00000563236.5:c.2864G>A	ENSP00000456149.1:p.Arg955Gln
ENST00000566786.5:c.2888G>A	ENSP00000457552.1:p.Arg963Gln
ENST00000569002.1:n.295G>A
NM_000339.2:c.2891G>A	NP_000330.2:p.Arg964Gln
NM_001126107.1:c.2888G>A	NP_001119579.1:p.Arg963Gln
NM_001126108.1:c.2864G>A	NP_001119580.1:p.Arg955Gln
XM_005256119.1:c.2861G>A	XP_005256176.1:p.Arg954Gln
XM_005256119.2:c.2861G>A	XP_005256176.1:p.Arg954Gln
NM_000339.3:c.2891G>A	NP_000330.3:p.Arg964Gln
NM_001126107.2:c.2888G>A	NP_001119579.2:p.Arg963Gln
NM_001126108.2:c.2864G>A MANE Select	NP_001119580.2:p.Arg955Gln