Canonical Allele Identifier: CA392313602

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1057520301
• gnomAD v2: 15-48543908-C-G
• gnomAD v3: 15-48251711-C-G
• gnomAD v4: 15-48251711-C-G
• MyVariant Identifiers: chr15:g.48543908C>G (hg19) ; chr15:g.48251711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251711C>G , CM000677.2:g.48251711C>G	GRCh38
NC_000015.9:g.48543908C>G , CM000677.1:g.48543908C>G	GRCh37
NC_000015.8:g.46331200C>G	NCBI36
NG_021301.1:g.50411C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1883C>G	ENSP00000508901.1:p.Ala628Gly
ENST00000380993.8:c.1883C>G MANE Select	ENSP00000370381.3:p.Ala628Gly
ENST00000646012.1:c.2021C>G	ENSP00000495813.1:p.Ala674Gly
ENST00000647232.1:c.1883C>G	ENSP00000493875.1:p.Ala628Gly
ENST00000647546.1:c.1883C>G	ENSP00000495332.1:p.Ala628Gly
ENST00000380993.7:c.1883C>G	ENSP00000370381.3:p.Ala628Gly
ENST00000396577.7:c.1883C>G	ENSP00000379822.3:p.Ala628Gly
ENST00000558252.5:n.6006C>G
ENST00000558405.5:c.1883C>G	ENSP00000453409.1:p.Ala628Gly
ENST00000559641.5:c.1322C>G	ENSP00000453230.1:p.Ala441Gly
ENST00000560692.5:n.6022C>G
NM_000338.2:c.1883C>G	NP_000329.2:p.Ala628Gly
NM_001184832.1:c.1883C>G	NP_001171761.1:p.Ala628Gly
XM_005254605.1:c.1979C>G	XP_005254662.1:p.Ala660Gly
XM_005254606.1:c.1883C>G	XP_005254663.1:p.Ala628Gly
XM_006720656.1:c.1979C>G	XP_006720719.1:p.Ala660Gly
XR_931896.1:n.2195C>G
XM_005254606.2:c.1883C>G	XP_005254663.1:p.Ala628Gly
NM_000338.3:c.1883C>G MANE Select	NP_000329.2:p.Ala628Gly
NM_001184832.2:c.1883C>G	NP_001171761.1:p.Ala628Gly
NM_001384136.1:c.1883C>G	NP_001371065.1:p.Ala628Gly