Canonical Allele Identifier: CA2175405953

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234910T= , CM000677.2:g.48234910T=	GRCh38
NC_000015.9:g.48527107T= , CM000677.1:g.48527107T=	GRCh37
NC_000015.8:g.46314399T=	NCBI36
NG_021301.1:g.33610T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.1121T=	ENSP00000508901.1:p.Phe374=
ENST00000380993.8:c.1121T= MANE Select	ENSP00000370381.3:p.Phe374=
ENST00000646012.1:c.1259T=	ENSP00000495813.1:p.Phe420=
ENST00000647232.1:c.1121T=	ENSP00000493875.1:p.Phe374=
ENST00000647546.1:c.1121T=	ENSP00000495332.1:p.Phe374=
ENST00000330289.10:c.1121T=	ENSP00000331550.6:p.Phe374=
ENST00000380993.7:c.1121T=	ENSP00000370381.3:p.Phe374=
ENST00000396577.7:c.1121T=	ENSP00000379822.3:p.Phe374=
ENST00000558252.5:n.5244T=
ENST00000558405.5:c.1121T=	ENSP00000453409.1:p.Phe374=
ENST00000558805.1:c.148T=
ENST00000559641.5:c.560T=	ENSP00000453230.1:p.Phe187=
ENST00000559723.2:n.494T=
ENST00000560692.5:n.5260T=
NM_000338.2:c.1121T=	NP_000329.2:p.Phe374=
NM_001184832.1:c.1121T=	NP_001171761.1:p.Phe374=
XM_005254605.1:c.1217T=	XP_005254662.1:p.Phe406=
XM_005254606.1:c.1121T=	XP_005254663.1:p.Phe374=
XM_006720656.1:c.1217T=	XP_006720719.1:p.Phe406=
XR_931896.1:n.1433T=
XM_005254606.2:c.1121T=	XP_005254663.1:p.Phe374=
NM_000338.3:c.1121T= MANE Select	NP_000329.2:p.Phe374=
NM_001184832.2:c.1121T=	NP_001171761.1:p.Phe374=
NM_001384136.1:c.1121T=	NP_001371065.1:p.Phe374=