Canonical Allele Identifier: CA8069600

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319906
• ClinVar RCV Id: RCV000350646 ; RCV001486238
• dbSNP Id: rs149644636
• ExAC: 16:56918065 G / A
• gnomAD v2: 16-56918065-G-A
• gnomAD v3: 16-56884153-G-A
• gnomAD v4: 16-56884153-G-A
• COSMIC: COSM2836042
• MyVariant Identifiers: chr16:g.56918065G>A (hg19) ; chr16:g.56884153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884153G>A , CM000678.2:g.56884153G>A	GRCh38
NC_000016.9:g.56918065G>A , CM000678.1:g.56918065G>A	GRCh37
NC_000016.8:g.55475566G>A	NCBI36
NG_009386.1:g.23947G>A
NG_009386.2:g.23947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1774G>A MANE Select	ENSP00000456149.2:p.Ala592Thr
ENST00000262502.5:c.1771G>A	ENSP00000262502.5:p.Ala591Thr
ENST00000438926.6:c.1774G>A	ENSP00000402152.2:p.Ala592Thr
ENST00000563236.5:c.1774G>A	ENSP00000456149.1:p.Ala592Thr
ENST00000566786.5:c.1771G>A	ENSP00000457552.1:p.Ala591Thr
NM_000339.2:c.1774G>A	NP_000330.2:p.Ala592Thr
NM_001126107.1:c.1771G>A	NP_001119579.1:p.Ala591Thr
NM_001126108.1:c.1774G>A	NP_001119580.1:p.Ala592Thr
XM_005256119.1:c.1771G>A	XP_005256176.1:p.Ala591Thr
XM_005256119.2:c.1771G>A	XP_005256176.1:p.Ala591Thr
NM_000339.3:c.1774G>A	NP_000330.3:p.Ala592Thr
NM_001126107.2:c.1771G>A	NP_001119579.2:p.Ala591Thr
NM_001126108.2:c.1774G>A MANE Select	NP_001119580.2:p.Ala592Thr