Canonical Allele Identifier: CA392311814

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48246949C>T , CM000677.2:g.48246949C>T	GRCh38
NC_000015.9:g.48539146C>T , CM000677.1:g.48539146C>T	GRCh37
NC_000015.8:g.46326438C>T	NCBI36
NG_021301.1:g.45649C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.1493C>T MANE Select	NP_000329.2:p.Ala498Val
ENST00000380993.8:c.1493C>T MANE Select	ENSP00000370381.3:p.Ala498Val
NM_000338.2:c.1493C>T	NP_000329.2:p.Ala498Val
NM_001184832.1:c.1493C>T	NP_001171761.1:p.Ala498Val
NM_001184832.2:c.1493C>T	NP_001171761.1:p.Ala498Val
NM_001384136.1:c.1493C>T	NP_001371065.1:p.Ala498Val
ENST00000380993.7:c.1493C>T	ENSP00000370381.3:p.Ala498Val
ENST00000396577.7:c.1493C>T	ENSP00000379822.3:p.Ala498Val
ENST00000558252.5:n.5616C>T
ENST00000558405.5:c.1493C>T	ENSP00000453409.1:p.Ala498Val
ENST00000559641.5:c.932C>T	ENSP00000453230.1:p.Ala311Val
ENST00000560692.5:n.5632C>T
ENST00000646012.1:c.1631C>T	ENSP00000495813.1:p.Ala544Val
ENST00000647232.1:c.1493C>T	ENSP00000493875.1:p.Ala498Val
ENST00000647546.1:c.1493C>T	ENSP00000495332.1:p.Ala498Val
ENST00000686073.1:c.1493C>T	ENSP00000508901.1:p.Ala498Val
XM_005254605.1:c.1589C>T	XP_005254662.1:p.Ala530Val
XM_005254606.1:c.1493C>T	XP_005254663.1:p.Ala498Val
XM_005254606.2:c.1493C>T	XP_005254663.1:p.Ala498Val
XM_006720656.1:c.1589C>T	XP_006720719.1:p.Ala530Val
XR_001751535.1:n.88-4522G>A
XR_931896.1:n.1805C>T