Canonical Allele Identifier: CA392313584

Gene: SLC12A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251703G>C , CM000677.2:g.48251703G>C	GRCh38
NC_000015.9:g.48543900G>C , CM000677.1:g.48543900G>C	GRCh37
NC_000015.8:g.46331192G>C	NCBI36
NG_021301.1:g.50403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.1875G>C	ENSP00000508901.1:p.Trp625Cys
ENST00000380993.8:c.1875G>C MANE Select	ENSP00000370381.3:p.Trp625Cys
ENST00000646012.1:c.2013G>C	ENSP00000495813.1:p.Trp671Cys
ENST00000647232.1:c.1875G>C	ENSP00000493875.1:p.Trp625Cys
ENST00000647546.1:c.1875G>C	ENSP00000495332.1:p.Trp625Cys
ENST00000380993.7:c.1875G>C	ENSP00000370381.3:p.Trp625Cys
ENST00000396577.7:c.1875G>C	ENSP00000379822.3:p.Trp625Cys
ENST00000558252.5:n.5998G>C
ENST00000558405.5:c.1875G>C	ENSP00000453409.1:p.Trp625Cys
ENST00000559641.5:c.1314G>C	ENSP00000453230.1:p.Trp438Cys
ENST00000560692.5:n.6014G>C
NM_000338.2:c.1875G>C	NP_000329.2:p.Trp625Cys
NM_001184832.1:c.1875G>C	NP_001171761.1:p.Trp625Cys
XM_005254605.1:c.1971G>C	XP_005254662.1:p.Trp657Cys
XM_005254606.1:c.1875G>C	XP_005254663.1:p.Trp625Cys
XM_006720656.1:c.1971G>C	XP_006720719.1:p.Trp657Cys
XR_931896.1:n.2187G>C
XM_005254606.2:c.1875G>C	XP_005254663.1:p.Trp625Cys
NM_000338.3:c.1875G>C MANE Select	NP_000329.2:p.Trp625Cys
NM_001184832.2:c.1875G>C	NP_001171761.1:p.Trp625Cys
NM_001384136.1:c.1875G>C	NP_001371065.1:p.Trp625Cys