Canonical Allele Identifier: CA2175395727

Gene: SLC12A1

Linked Data

• dbSNP Id: rs2041369159

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48230980T>G , CM000677.2:g.48230980T>G	GRCh38
NC_000015.9:g.48523177T>G , CM000677.1:g.48523177T>G	GRCh37
NC_000015.8:g.46310469T>G	NCBI36
NG_021301.1:g.29680T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.975+477T>G	ENSP00000508901.1:n.975+477T>G
ENST00000380993.8:c.975+477T>G MANE Select	ENSP00000370381.3:n.975+477T>G
ENST00000646012.1:c.1113+477T>G	ENSP00000495813.1:n.1113+477T>G
ENST00000647232.1:c.975+477T>G	ENSP00000493875.1:n.975+477T>G
ENST00000647546.1:c.975+477T>G	ENSP00000495332.1:n.975+477T>G
ENST00000330289.10:c.975+477T>G	ENSP00000331550.6:n.975+477T>G
ENST00000380993.7:c.975+477T>G	ENSP00000370381.3:n.975+477T>G
ENST00000396577.7:c.975+477T>G	ENSP00000379822.3:n.975+477T>G
ENST00000558252.5:n.5098+477T>G
ENST00000558405.5:c.975+477T>G	ENSP00000453409.1:n.975+477T>G
ENST00000559641.5:c.414+477T>G	ENSP00000453230.1:n.414+477T>G
ENST00000559723.2:n.348+477T>G
ENST00000560692.5:n.5114+477T>G
NM_000338.2:c.975+477T>G	NP_000329.2:n.975+477T>G
NM_001184832.1:c.975+477T>G	NP_001171761.1:n.975+477T>G
XM_005254605.1:c.1071+477T>G	XP_005254662.1:n.1071+477T>G
XM_005254606.1:c.975+477T>G	XP_005254663.1:n.975+477T>G
XM_006720656.1:c.1071+477T>G	XP_006720719.1:n.1071+477T>G
XR_931896.1:n.1287+477T>G
XM_005254606.2:c.975+477T>G	XP_005254663.1:n.975+477T>G
XR_001751533.1:n.246-142A>C
NM_000338.3:c.975+477T>G MANE Select	NP_000329.2:n.975+477T>G
NM_001184832.2:c.975+477T>G	NP_001171761.1:n.975+477T>G
NM_001384136.1:c.975+477T>G	NP_001371065.1:n.975+477T>G