Canonical Allele Identifier: CA7546840

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 1975222
• ClinVar RCV Id: RCV002755568
• dbSNP Id: rs138091124
• ExAC: 15:48518740 G / A
• gnomAD v2: 15-48518740-G-A
• gnomAD v3: 15-48226543-G-A
• gnomAD v4: 15-48226543-G-A
• COSMIC: COSM5539008
• MyVariant Identifiers: chr15:g.48518740G>A (hg19) ; chr15:g.48226543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226543G>A , CM000677.2:g.48226543G>A	GRCh38
NC_000015.9:g.48518740G>A , CM000677.1:g.48518740G>A	GRCh37
NC_000015.8:g.46306032G>A	NCBI36
NG_021301.1:g.25243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+596G>A	ENSP00000508901.1:n.724+596G>A
ENST00000380993.8:c.696G>A MANE Select	ENSP00000370381.3:p.Ala232=
ENST00000646012.1:c.834G>A	ENSP00000495813.1:p.Ala278=
ENST00000647232.1:c.629-536G>A	ENSP00000493875.1:n.629-536G>A
ENST00000647546.1:c.696G>A	ENSP00000495332.1:p.Ala232=
ENST00000330289.10:c.696G>A	ENSP00000331550.6:p.Ala232=
ENST00000380993.7:c.696G>A	ENSP00000370381.3:p.Ala232=
ENST00000396577.7:c.629-536G>A	ENSP00000379822.3:n.629-536G>A
ENST00000558252.5:n.4216G>A
ENST00000558405.5:c.696G>A	ENSP00000453409.1:p.Ala232=
ENST00000559641.5:c.135G>A	ENSP00000453230.1:p.Ala45=
ENST00000559723.2:n.97+596G>A
ENST00000560692.5:n.2218G>A
ENST00000561127.5:c.135G>A	ENSP00000453602.2:p.Ala45=
NM_000338.2:c.696G>A	NP_000329.2:p.Ala232=
NM_001184832.1:c.629-536G>A	NP_001171761.1:n.629-536G>A
XM_005254605.1:c.696G>A	XP_005254662.1:p.Ala232=
XM_005254606.1:c.724+596G>A	XP_005254663.1:n.724+596G>A
XM_006720656.1:c.696G>A	XP_006720719.1:p.Ala232=
XR_931896.1:n.912G>A
XM_005254606.2:c.724+596G>A	XP_005254663.1:n.724+596G>A
XR_001751524.2:n.363+918C>T
XR_001751525.1:n.363+918C>T
XR_002957762.1:n.363+918C>T
XR_932204.3:n.357+918C>T
NM_000338.3:c.696G>A MANE Select	NP_000329.2:p.Ala232=
NM_001184832.2:c.629-536G>A	NP_001171761.1:n.629-536G>A
NM_001384136.1:c.724+596G>A	NP_001371065.1:n.724+596G>A