Canonical Allele Identifier: CA2175420376

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1597429538
• gnomAD v4: 15-48251783-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251783C>G , CM000677.2:g.48251783C>G	GRCh38
NC_000015.9:g.48543980C>G , CM000677.1:g.48543980C>G	GRCh37
NC_000015.8:g.46331272C>G	NCBI36
NG_021301.1:g.50483C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1942+13C>G	ENSP00000508901.1:n.1942+13C>G
ENST00000380993.8:c.1942+13C>G MANE Select	ENSP00000370381.3:n.1942+13C>G
ENST00000646012.1:c.2080+13C>G	ENSP00000495813.1:n.2080+13C>G
ENST00000647232.1:c.1942+13C>G	ENSP00000493875.1:n.1942+13C>G
ENST00000647546.1:c.1942+13C>G	ENSP00000495332.1:n.1942+13C>G
ENST00000380993.7:c.1942+13C>G	ENSP00000370381.3:n.1942+13C>G
ENST00000396577.7:c.1942+13C>G	ENSP00000379822.3:n.1942+13C>G
ENST00000558252.5:n.6065+13C>G
ENST00000558405.5:c.1942+13C>G	ENSP00000453409.1:n.1942+13C>G
ENST00000559641.5:c.1381+13C>G	ENSP00000453230.1:n.1381+13C>G
ENST00000560692.5:n.6081+13C>G
NM_000338.2:c.1942+13C>G	NP_000329.2:n.1942+13C>G
NM_001184832.1:c.1942+13C>G	NP_001171761.1:n.1942+13C>G
XM_005254605.1:c.2038+13C>G	XP_005254662.1:n.2038+13C>G
XM_005254606.1:c.1942+13C>G	XP_005254663.1:n.1942+13C>G
XM_006720656.1:c.2038+13C>G	XP_006720719.1:n.2038+13C>G
XR_931896.1:n.2254+13C>G
XM_005254606.2:c.1942+13C>G	XP_005254663.1:n.1942+13C>G
NM_000338.3:c.1942+13C>G MANE Select	NP_000329.2:n.1942+13C>G
NM_001184832.2:c.1942+13C>G	NP_001171761.1:n.1942+13C>G
NM_001384136.1:c.1942+13C>G	NP_001371065.1:n.1942+13C>G