Canonical Allele Identifier: CA2175405984

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234981G= , CM000677.2:g.48234981G=	GRCh38
NC_000015.9:g.48527178G= , CM000677.1:g.48527178G=	GRCh37
NC_000015.8:g.46314470G=	NCBI36
NG_021301.1:g.33681G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.1192G=	ENSP00000508901.1:p.Ala398=
ENST00000380993.8:c.1192G= MANE Select	ENSP00000370381.3:p.Ala398=
ENST00000646012.1:c.1330G=	ENSP00000495813.1:p.Ala444=
ENST00000647232.1:c.1192G=	ENSP00000493875.1:p.Ala398=
ENST00000647546.1:c.1192G=	ENSP00000495332.1:p.Ala398=
ENST00000330289.10:c.1192G=	ENSP00000331550.6:p.Ala398=
ENST00000380993.7:c.1192G=	ENSP00000370381.3:p.Ala398=
ENST00000396577.7:c.1192G=	ENSP00000379822.3:p.Ala398=
ENST00000558252.5:n.5315G=
ENST00000558405.5:c.1192G=	ENSP00000453409.1:p.Ala398=
ENST00000558805.1:c.219G=
ENST00000559641.5:c.631G=	ENSP00000453230.1:p.Ala211=
ENST00000560692.5:n.5331G=
NM_000338.2:c.1192G=	NP_000329.2:p.Ala398=
NM_001184832.1:c.1192G=	NP_001171761.1:p.Ala398=
XM_005254605.1:c.1288G=	XP_005254662.1:p.Ala430=
XM_005254606.1:c.1192G=	XP_005254663.1:p.Ala398=
XM_006720656.1:c.1288G=	XP_006720719.1:p.Ala430=
XR_931896.1:n.1504G=
XM_005254606.2:c.1192G=	XP_005254663.1:p.Ala398=
NM_000338.3:c.1192G= MANE Select	NP_000329.2:p.Ala398=
NM_001184832.2:c.1192G=	NP_001171761.1:p.Ala398=
NM_001384136.1:c.1192G=	NP_001371065.1:p.Ala398=