Canonical Allele Identifier: CA8070172

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 448395
• ClinVar RCV Id: RCV000517299 ; RCV001271446
• dbSNP Id: rs199849117
• ExAC: 16:56947205 G / A
• gnomAD v2: 16-56947205-G-A
• gnomAD v3: 16-56913293-G-A
• gnomAD v4: 16-56913293-G-A
• MyVariant Identifiers: chr16:g.56947205G>A (hg19) ; chr16:g.56913293G>A (hg38)
• PubMed: PMID:12039972 ; PMID:12112667 ; PMID:17654016 ; PMID:21415153 ; PMID:21753071 ; PMID:22009145 ; PMID:22990302

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913293G>A , CM000678.2:g.56913293G>A	GRCh38
NC_000016.9:g.56947205G>A , CM000678.1:g.56947205G>A	GRCh37
NC_000016.8:g.55504706G>A	NCBI36
NG_009386.1:g.53087G>A
NG_009386.2:g.53087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2954G>A MANE Select	ENSP00000456149.2:p.Cys985Tyr
ENST00000262502.5:c.2951G>A	ENSP00000262502.5:p.Cys984Tyr
ENST00000438926.6:c.2981G>A	ENSP00000402152.2:p.Cys994Tyr
ENST00000563236.5:c.2954G>A	ENSP00000456149.1:p.Cys985Tyr
ENST00000563352.1:n.102G>A
ENST00000566786.5:c.2978G>A	ENSP00000457552.1:p.Cys993Tyr
NM_000339.2:c.2981G>A	NP_000330.2:p.Cys994Tyr
NM_001126107.1:c.2978G>A	NP_001119579.1:p.Cys993Tyr
NM_001126108.1:c.2954G>A	NP_001119580.1:p.Cys985Tyr
XM_005256119.1:c.2951G>A	XP_005256176.1:p.Cys984Tyr
XM_005256119.2:c.2951G>A	XP_005256176.1:p.Cys984Tyr
NM_000339.3:c.2981G>A	NP_000330.3:p.Cys994Tyr
NM_001126107.2:c.2978G>A	NP_001119579.2:p.Cys993Tyr
NM_001126108.2:c.2954G>A MANE Select	NP_001119580.2:p.Cys985Tyr