Canonical Allele Identifier: CA392307038

Gene: SLC12A1

Linked Data

• dbSNP Id: rs2041336339
• gnomAD v3: 15-48229264-C-T
• gnomAD v4: 15-48229264-C-T
• MyVariant Identifiers: chr15:g.48521461C>T (hg19) ; chr15:g.48229264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229264C>T , CM000677.2:g.48229264C>T	GRCh38
NC_000015.9:g.48521461C>T , CM000677.1:g.48521461C>T	GRCh37
NC_000015.8:g.46308753C>T	NCBI36
NG_021301.1:g.27964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.800C>T	ENSP00000508901.1:p.Ala267Val
ENST00000380993.8:c.800C>T MANE Select	ENSP00000370381.3:p.Ala267Val
ENST00000646012.1:c.938C>T	ENSP00000495813.1:p.Ala313Val
ENST00000647232.1:c.800C>T	ENSP00000493875.1:p.Ala267Val
ENST00000647546.1:c.800C>T	ENSP00000495332.1:p.Ala267Val
ENST00000330289.10:c.800C>T	ENSP00000331550.6:p.Ala267Val
ENST00000380993.7:c.800C>T	ENSP00000370381.3:p.Ala267Val
ENST00000396577.7:c.800C>T	ENSP00000379822.3:p.Ala267Val
ENST00000558252.5:n.4923C>T
ENST00000558405.5:c.800C>T	ENSP00000453409.1:p.Ala267Val
ENST00000559641.5:c.239C>T	ENSP00000453230.1:p.Ala80Val
ENST00000559723.2:n.173C>T
ENST00000560692.5:n.4939C>T
ENST00000561127.5:c.239C>T	ENSP00000453602.2:p.Ala80Val
NM_000338.2:c.800C>T	NP_000329.2:p.Ala267Val
NM_001184832.1:c.800C>T	NP_001171761.1:p.Ala267Val
XM_005254605.1:c.896C>T	XP_005254662.1:p.Ala299Val
XM_005254606.1:c.800C>T	XP_005254663.1:p.Ala267Val
XM_006720656.1:c.896C>T	XP_006720719.1:p.Ala299Val
XR_931896.1:n.1112C>T
XR_932203.1:n.229+692G>A
XR_932204.1:n.222+692G>A
XM_005254606.2:c.800C>T	XP_005254663.1:p.Ala267Val
XR_001751524.2:n.230+692G>A
XR_001751525.1:n.230+692G>A
XR_002957762.1:n.230+692G>A
XR_932204.3:n.224+692G>A
NM_000338.3:c.800C>T MANE Select	NP_000329.2:p.Ala267Val
NM_001184832.2:c.800C>T	NP_001171761.1:p.Ala267Val
NM_001384136.1:c.800C>T	NP_001371065.1:p.Ala267Val