Canonical Allele Identifier: CA7546939

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48230504G>A , CM000677.2:g.48230504G>A	GRCh38
NC_000015.9:g.48522701G>A , CM000677.1:g.48522701G>A	GRCh37
NC_000015.8:g.46309993G>A	NCBI36
NG_021301.1:g.29204G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.975+1G>A MANE Select	NP_000329.2:n.975+1G>A
ENST00000380993.8:c.975+1G>A MANE Select	ENSP00000370381.3:n.975+1G>A
NM_000338.2:c.975+1G>A	NP_000329.2:n.975+1G>A
NM_001184832.1:c.975+1G>A	NP_001171761.1:n.975+1G>A
NM_001184832.2:c.975+1G>A	NP_001171761.1:n.975+1G>A
NM_001384136.1:c.975+1G>A	NP_001371065.1:n.975+1G>A
ENST00000330289.10:c.975+1G>A	ENSP00000331550.6:n.975+1G>A
ENST00000380993.7:c.975+1G>A	ENSP00000370381.3:n.975+1G>A
ENST00000396577.7:c.975+1G>A	ENSP00000379822.3:n.975+1G>A
ENST00000558252.5:n.5098+1G>A
ENST00000558405.5:c.975+1G>A	ENSP00000453409.1:n.975+1G>A
ENST00000559641.5:c.414+1G>A	ENSP00000453230.1:n.414+1G>A
ENST00000559723.2:n.348+1G>A
ENST00000560692.5:n.5114+1G>A
ENST00000646012.1:c.1113+1G>A	ENSP00000495813.1:n.1113+1G>A
ENST00000647232.1:c.975+1G>A	ENSP00000493875.1:n.975+1G>A
ENST00000647546.1:c.975+1G>A	ENSP00000495332.1:n.975+1G>A
ENST00000686073.1:c.975+1G>A	ENSP00000508901.1:n.975+1G>A
XM_005254605.1:c.1071+1G>A	XP_005254662.1:n.1071+1G>A
XM_005254606.1:c.975+1G>A	XP_005254663.1:n.975+1G>A
XM_005254606.2:c.975+1G>A	XP_005254663.1:n.975+1G>A
XM_006720656.1:c.1071+1G>A	XP_006720719.1:n.1071+1G>A
XR_931896.1:n.1287+1G>A