Canonical Allele Identifier: CA392313732

Gene: SLC12A1

Linked Data

• dbSNP Id: rs137853157
• gnomAD v3: 15-48251770-G-C
• gnomAD v4: 15-48251770-G-C
• MyVariant Identifiers: chr15:g.48543967G>C (hg19) ; chr15:g.48251770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251770G>C , CM000677.2:g.48251770G>C	GRCh38
NC_000015.9:g.48543967G>C , CM000677.1:g.48543967G>C	GRCh37
NC_000015.8:g.46331259G>C	NCBI36
NG_021301.1:g.50470G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1942G>C	ENSP00000508901.1:p.Asp648His
ENST00000380993.8:c.1942G>C MANE Select	ENSP00000370381.3:p.Asp648His
ENST00000646012.1:c.2080G>C	ENSP00000495813.1:p.Asp694His
ENST00000647232.1:c.1942G>C	ENSP00000493875.1:p.Asp648His
ENST00000647546.1:c.1942G>C	ENSP00000495332.1:p.Asp648His
ENST00000380993.7:c.1942G>C	ENSP00000370381.3:p.Asp648His
ENST00000396577.7:c.1942G>C	ENSP00000379822.3:p.Asp648His
ENST00000558252.5:n.6065G>C
ENST00000558405.5:c.1942G>C	ENSP00000453409.1:p.Asp648His
ENST00000559641.5:c.1381G>C	ENSP00000453230.1:p.Asp461His
ENST00000560692.5:n.6081G>C
NM_000338.2:c.1942G>C	NP_000329.2:p.Asp648His
NM_001184832.1:c.1942G>C	NP_001171761.1:p.Asp648His
XM_005254605.1:c.2038G>C	XP_005254662.1:p.Asp680His
XM_005254606.1:c.1942G>C	XP_005254663.1:p.Asp648His
XM_006720656.1:c.2038G>C	XP_006720719.1:p.Asp680His
XR_931896.1:n.2254G>C
XM_005254606.2:c.1942G>C	XP_005254663.1:p.Asp648His
NM_000338.3:c.1942G>C MANE Select	NP_000329.2:p.Asp648His
NM_001184832.2:c.1942G>C	NP_001171761.1:p.Asp648His
NM_001384136.1:c.1942G>C	NP_001371065.1:p.Asp648His