Canonical Allele Identifier: CA8069588

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1148305
• ClinVar RCV Id: RCV001488154
• dbSNP Id: rs774100756
• ExAC: 16:56918010 G / A
• gnomAD v2: 16-56918010-G-A
• gnomAD v4: 16-56884098-G-A
• MyVariant Identifiers: chr16:g.56918010G>A (hg19) ; chr16:g.56884098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884098G>A , CM000678.2:g.56884098G>A	GRCh38
NC_000016.9:g.56918010G>A , CM000678.1:g.56918010G>A	GRCh37
NC_000016.8:g.55475511G>A	NCBI36
NG_009386.1:g.23892G>A
NG_009386.2:g.23892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1719G>A MANE Select	ENSP00000456149.2:p.Gly573=
ENST00000262502.5:c.1716G>A	ENSP00000262502.5:p.Gly572=
ENST00000438926.6:c.1719G>A	ENSP00000402152.2:p.Gly573=
ENST00000563236.5:c.1719G>A	ENSP00000456149.1:p.Gly573=
ENST00000566786.5:c.1716G>A	ENSP00000457552.1:p.Gly572=
NM_000339.2:c.1719G>A	NP_000330.2:p.Gly573=
NM_001126107.1:c.1716G>A	NP_001119579.1:p.Gly572=
NM_001126108.1:c.1719G>A	NP_001119580.1:p.Gly573=
XM_005256119.1:c.1716G>A	XP_005256176.1:p.Gly572=
XM_005256119.2:c.1716G>A	XP_005256176.1:p.Gly572=
NM_000339.3:c.1719G>A	NP_000330.3:p.Gly573=
NM_001126107.2:c.1716G>A	NP_001119579.2:p.Gly572=
NM_001126108.2:c.1719G>A MANE Select	NP_001119580.2:p.Gly573=