Canonical Allele Identifier: CA204579

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 208612
• ClinVar RCV Id: RCV000190624 ; RCV000255367 ; RCV000626663 ; RCV001328096 ; RCV003401040 ; RCV004017477
• dbSNP Id: rs138977195
• ExAC: 16:56921879 G / A
• gnomAD v2: 16-56921879-G-A
• gnomAD v3: 16-56887967-G-A
• gnomAD v4: 16-56887967-G-A
• MyVariant Identifiers: chr16:g.56921879G>A (hg19) ; chr16:g.56887967G>A (hg38)
• PubMed: PMID:8528245 ; PMID:12039972 ; PMID:21415153 ; PMID:22009145 ; PMID:23328711 ; PMID:26921350

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887967G>A , CM000678.2:g.56887967G>A	GRCh38
NC_000016.9:g.56921879G>A , CM000678.1:g.56921879G>A	GRCh37
NC_000016.8:g.55479380G>A	NCBI36
NG_009386.1:g.27761G>A
NG_009386.2:g.27761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2221G>A MANE Select	ENSP00000456149.2:p.Gly741Arg
ENST00000262502.5:c.2218G>A	ENSP00000262502.5:p.Gly740Arg
ENST00000438926.6:c.2221G>A	ENSP00000402152.2:p.Gly741Arg
ENST00000563236.5:c.2221G>A	ENSP00000456149.1:p.Gly741Arg
ENST00000566786.5:c.2218G>A	ENSP00000457552.1:p.Gly740Arg
NM_000339.2:c.2221G>A	NP_000330.2:p.Gly741Arg
NM_001126107.1:c.2218G>A	NP_001119579.1:p.Gly740Arg
NM_001126108.1:c.2221G>A	NP_001119580.1:p.Gly741Arg
XM_005256119.1:c.2218G>A	XP_005256176.1:p.Gly740Arg
XM_005256119.2:c.2218G>A	XP_005256176.1:p.Gly740Arg
NM_000339.3:c.2221G>A	NP_000330.3:p.Gly741Arg
NM_001126107.2:c.2218G>A	NP_001119579.2:p.Gly740Arg
NM_001126108.2:c.2221G>A MANE Select	NP_001119580.2:p.Gly741Arg