Canonical Allele Identifier: CA969542739

Gene: SLC12A1

Linked Data

• dbSNP Id: rs2041651726
• gnomAD v3: 15-48251777-T-C
• gnomAD v4: 15-48251777-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251777T>C , CM000677.2:g.48251777T>C	GRCh38
NC_000015.9:g.48543974T>C , CM000677.1:g.48543974T>C	GRCh37
NC_000015.8:g.46331266T>C	NCBI36
NG_021301.1:g.50477T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1942+7T>C	ENSP00000508901.1:n.1942+7T>C
ENST00000380993.8:c.1942+7T>C MANE Select	ENSP00000370381.3:n.1942+7T>C
ENST00000646012.1:c.2080+7T>C	ENSP00000495813.1:n.2080+7T>C
ENST00000647232.1:c.1942+7T>C	ENSP00000493875.1:n.1942+7T>C
ENST00000647546.1:c.1942+7T>C	ENSP00000495332.1:n.1942+7T>C
ENST00000380993.7:c.1942+7T>C	ENSP00000370381.3:n.1942+7T>C
ENST00000396577.7:c.1942+7T>C	ENSP00000379822.3:n.1942+7T>C
ENST00000558252.5:n.6065+7T>C
ENST00000558405.5:c.1942+7T>C	ENSP00000453409.1:n.1942+7T>C
ENST00000559641.5:c.1381+7T>C	ENSP00000453230.1:n.1381+7T>C
ENST00000560692.5:n.6081+7T>C
NM_000338.2:c.1942+7T>C	NP_000329.2:n.1942+7T>C
NM_001184832.1:c.1942+7T>C	NP_001171761.1:n.1942+7T>C
XM_005254605.1:c.2038+7T>C	XP_005254662.1:n.2038+7T>C
XM_005254606.1:c.1942+7T>C	XP_005254663.1:n.1942+7T>C
XM_006720656.1:c.2038+7T>C	XP_006720719.1:n.2038+7T>C
XR_931896.1:n.2254+7T>C
XM_005254606.2:c.1942+7T>C	XP_005254663.1:n.1942+7T>C
NM_000338.3:c.1942+7T>C MANE Select	NP_000329.2:n.1942+7T>C
NM_001184832.2:c.1942+7T>C	NP_001171761.1:n.1942+7T>C
NM_001384136.1:c.1942+7T>C	NP_001371065.1:n.1942+7T>C