Canonical Allele Identifier: CA2175395763

Gene: SLC12A1

Linked Data

• dbSNP Id: rs370606494

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48231017G>A , CM000677.2:g.48231017G>A	GRCh38
NC_000015.9:g.48523214G>A , CM000677.1:g.48523214G>A	GRCh37
NC_000015.8:g.46310506G>A	NCBI36
NG_021301.1:g.29717G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.975+514G>A	ENSP00000508901.1:n.975+514G>A
ENST00000380993.8:c.975+514G>A MANE Select	ENSP00000370381.3:n.975+514G>A
ENST00000646012.1:c.1113+514G>A	ENSP00000495813.1:n.1113+514G>A
ENST00000647232.1:c.975+514G>A	ENSP00000493875.1:n.975+514G>A
ENST00000647546.1:c.975+514G>A	ENSP00000495332.1:n.975+514G>A
ENST00000330289.10:c.975+514G>A	ENSP00000331550.6:n.975+514G>A
ENST00000380993.7:c.975+514G>A	ENSP00000370381.3:n.975+514G>A
ENST00000396577.7:c.975+514G>A	ENSP00000379822.3:n.975+514G>A
ENST00000558252.5:n.5098+514G>A
ENST00000558405.5:c.975+514G>A	ENSP00000453409.1:n.975+514G>A
ENST00000559641.5:c.414+514G>A	ENSP00000453230.1:n.414+514G>A
ENST00000559723.2:n.348+514G>A
ENST00000560692.5:n.5114+514G>A
NM_000338.2:c.975+514G>A	NP_000329.2:n.975+514G>A
NM_001184832.1:c.975+514G>A	NP_001171761.1:n.975+514G>A
XM_005254605.1:c.1071+514G>A	XP_005254662.1:n.1071+514G>A
XM_005254606.1:c.975+514G>A	XP_005254663.1:n.975+514G>A
XM_006720656.1:c.1071+514G>A	XP_006720719.1:n.1071+514G>A
XR_931896.1:n.1287+514G>A
XM_005254606.2:c.975+514G>A	XP_005254663.1:n.975+514G>A
XR_001751533.1:n.246-179C>T
NM_000338.3:c.975+514G>A MANE Select	NP_000329.2:n.975+514G>A
NM_001184832.2:c.975+514G>A	NP_001171761.1:n.975+514G>A
NM_001384136.1:c.975+514G>A	NP_001371065.1:n.975+514G>A