Canonical Allele Identifier: CA392317970

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48288154G>A , CM000677.2:g.48288154G>A	GRCh38
NC_000015.9:g.48580351G>A , CM000677.1:g.48580351G>A	GRCh37
NC_000015.8:g.46367643G>A	NCBI36
NG_021301.1:g.86854G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.2741G>A MANE Select	NP_000329.2:p.Trp914Ter
ENST00000380993.8:c.2741G>A MANE Select	ENSP00000370381.3:p.Trp914Ter
NM_000338.2:c.2741G>A	NP_000329.2:p.Trp914Ter
NM_001184832.1:c.2741G>A	NP_001171761.1:p.Trp914Ter
NM_001184832.2:c.2741G>A	NP_001171761.1:p.Trp914Ter
NM_001384136.1:c.2741G>A	NP_001371065.1:p.Trp914Ter
ENST00000380993.7:c.2741G>A	ENSP00000370381.3:p.Trp914Ter
ENST00000396577.7:c.2741G>A	ENSP00000379822.3:p.Trp914Ter
ENST00000558252.5:n.6864G>A
ENST00000558405.5:c.2741G>A	ENSP00000453409.1:p.Trp914Ter
ENST00000560692.5:n.6880G>A
ENST00000646012.1:c.2879G>A	ENSP00000495813.1:p.Trp960Ter
ENST00000647232.1:c.2741G>A	ENSP00000493875.1:p.Trp914Ter
ENST00000647546.1:c.2741G>A	ENSP00000495332.1:p.Trp914Ter
ENST00000686073.1:c.2741G>A	ENSP00000508901.1:p.Trp914Ter
XM_005254605.1:c.2837G>A	XP_005254662.1:p.Trp946Ter
XM_005254606.1:c.2741G>A	XP_005254663.1:p.Trp914Ter
XM_005254606.2:c.2741G>A	XP_005254663.1:p.Trp914Ter
XM_006720656.1:c.2837G>A	XP_006720719.1:p.Trp946Ter
XR_001751523.1:n.1001+1624C>T
XR_931896.1:n.3054G>A