Canonical Allele Identifier: CA392305511

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1444130096
• gnomAD v2: 15-48518708-G-A
• gnomAD v3: 15-48226511-G-A
• gnomAD v4: 15-48226511-G-A
• MyVariant Identifiers: chr15:g.48518708G>A (hg19) ; chr15:g.48226511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226511G>A , CM000677.2:g.48226511G>A	GRCh38
NC_000015.9:g.48518708G>A , CM000677.1:g.48518708G>A	GRCh37
NC_000015.8:g.46306000G>A	NCBI36
NG_021301.1:g.25211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+564G>A	ENSP00000508901.1:n.724+564G>A
ENST00000380993.8:c.664G>A MANE Select	ENSP00000370381.3:p.Val222Ile
ENST00000646012.1:c.802G>A	ENSP00000495813.1:p.Val268Ile
ENST00000647232.1:c.629-568G>A	ENSP00000493875.1:n.629-568G>A
ENST00000647546.1:c.664G>A	ENSP00000495332.1:p.Val222Ile
ENST00000330289.10:c.664G>A	ENSP00000331550.6:p.Val222Ile
ENST00000380993.7:c.664G>A	ENSP00000370381.3:p.Val222Ile
ENST00000396577.7:c.629-568G>A	ENSP00000379822.3:n.629-568G>A
ENST00000558252.5:n.4184G>A
ENST00000558405.5:c.664G>A	ENSP00000453409.1:p.Val222Ile
ENST00000559641.5:c.103G>A	ENSP00000453230.1:p.Val35Ile
ENST00000559723.2:n.97+564G>A
ENST00000560692.5:n.2186G>A
ENST00000561127.5:c.103G>A	ENSP00000453602.2:p.Val35Ile
NM_000338.2:c.664G>A	NP_000329.2:p.Val222Ile
NM_001184832.1:c.629-568G>A	NP_001171761.1:n.629-568G>A
XM_005254605.1:c.664G>A	XP_005254662.1:p.Val222Ile
XM_005254606.1:c.724+564G>A	XP_005254663.1:n.724+564G>A
XM_006720656.1:c.664G>A	XP_006720719.1:p.Val222Ile
XR_931896.1:n.880G>A
XM_005254606.2:c.724+564G>A	XP_005254663.1:n.724+564G>A
XR_001751524.2:n.363+950C>T
XR_001751525.1:n.363+950C>T
XR_002957762.1:n.363+950C>T
XR_932204.3:n.357+950C>T
NM_000338.3:c.664G>A MANE Select	NP_000329.2:p.Val222Ile
NM_001184832.2:c.629-568G>A	NP_001171761.1:n.629-568G>A
NM_001384136.1:c.724+564G>A	NP_001371065.1:n.724+564G>A