Canonical Allele Identifier: CA392308481

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48527086C>A (hg19) ; chr15:g.48234889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234889C>A , CM000677.2:g.48234889C>A	GRCh38
NC_000015.9:g.48527086C>A , CM000677.1:g.48527086C>A	GRCh37
NC_000015.8:g.46314378C>A	NCBI36
NG_021301.1:g.33589C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1100C>A	ENSP00000508901.1:p.Ala367Glu
ENST00000380993.8:c.1100C>A MANE Select	ENSP00000370381.3:p.Ala367Glu
ENST00000646012.1:c.1238C>A	ENSP00000495813.1:p.Ala413Glu
ENST00000647232.1:c.1100C>A	ENSP00000493875.1:p.Ala367Glu
ENST00000647546.1:c.1100C>A	ENSP00000495332.1:p.Ala367Glu
ENST00000330289.10:c.1100C>A	ENSP00000331550.6:p.Ala367Glu
ENST00000380993.7:c.1100C>A	ENSP00000370381.3:p.Ala367Glu
ENST00000396577.7:c.1100C>A	ENSP00000379822.3:p.Ala367Glu
ENST00000558252.5:n.5223C>A
ENST00000558405.5:c.1100C>A	ENSP00000453409.1:p.Ala367Glu
ENST00000558805.1:c.127C>A
ENST00000559641.5:c.539C>A	ENSP00000453230.1:p.Ala180Glu
ENST00000559723.2:n.473C>A
ENST00000560692.5:n.5239C>A
NM_000338.2:c.1100C>A	NP_000329.2:p.Ala367Glu
NM_001184832.1:c.1100C>A	NP_001171761.1:p.Ala367Glu
XM_005254605.1:c.1196C>A	XP_005254662.1:p.Ala399Glu
XM_005254606.1:c.1100C>A	XP_005254663.1:p.Ala367Glu
XM_006720656.1:c.1196C>A	XP_006720719.1:p.Ala399Glu
XR_931896.1:n.1412C>A
XM_005254606.2:c.1100C>A	XP_005254663.1:p.Ala367Glu
NM_000338.3:c.1100C>A MANE Select	NP_000329.2:p.Ala367Glu
NM_001184832.2:c.1100C>A	NP_001171761.1:p.Ala367Glu
NM_001384136.1:c.1100C>A	NP_001371065.1:p.Ala367Glu