Canonical Allele Identifier: CA495602907

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56903678G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869766G>C , CM000678.2:g.56869766G>C	GRCh38
NC_000016.9:g.56903678G>C , CM000678.1:g.56903678G>C	GRCh37
NC_000016.8:g.55461179G>C	NCBI36
NG_009386.1:g.9560G>C
NG_009386.2:g.9560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.543G>C MANE Select	ENSP00000456149.2:p.Val181=
ENST00000262502.5:c.540G>C	ENSP00000262502.5:p.Val180=
ENST00000438926.6:c.543G>C	ENSP00000402152.2:p.Val181=
ENST00000563236.5:c.543G>C	ENSP00000456149.1:p.Val181=
ENST00000566786.5:c.540G>C	ENSP00000457552.1:p.Val180=
NM_000339.2:c.543G>C	NP_000330.2:p.Val181=
NM_001126107.1:c.540G>C	NP_001119579.1:p.Val180=
NM_001126108.1:c.543G>C	NP_001119580.1:p.Val181=
XM_005256119.1:c.540G>C	XP_005256176.1:p.Val180=
XM_005256119.2:c.540G>C	XP_005256176.1:p.Val180=
NM_000339.3:c.543G>C	NP_000330.3:p.Val181=
NM_001126107.2:c.540G>C	NP_001119579.2:p.Val180=
NM_001126108.2:c.543G>C MANE Select	NP_001119580.2:p.Val181=