Canonical Allele Identifier: CA392307256
Gene: SLC12A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229315T>A , CM000677.2:g.48229315T>A GRCh38
NC_000015.9:g.48521512T>A , CM000677.1:g.48521512T>A GRCh37
NC_000015.8:g.46308804T>A NCBI36
NG_021301.1:g.28015T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.851T>A ENSP00000508901.1:p.Val284Glu
ENST00000380993.8:c.851T>A MANE Select ENSP00000370381.3:p.Val284Glu
ENST00000646012.1:c.989T>A ENSP00000495813.1:p.Val330Glu
ENST00000647232.1:c.851T>A ENSP00000493875.1:p.Val284Glu
ENST00000647546.1:c.851T>A ENSP00000495332.1:p.Val284Glu
ENST00000330289.10:c.851T>A ENSP00000331550.6:p.Val284Glu
ENST00000380993.7:c.851T>A ENSP00000370381.3:p.Val284Glu
ENST00000396577.7:c.851T>A ENSP00000379822.3:p.Val284Glu
ENST00000558252.5:n.4974T>A
ENST00000558405.5:c.851T>A ENSP00000453409.1:p.Val284Glu
ENST00000559641.5:c.290T>A ENSP00000453230.1:p.Val97Glu
ENST00000559723.2:n.224T>A
ENST00000560692.5:n.4990T>A
ENST00000561127.5:c.290T>A ENSP00000453602.2:p.Val97Glu
NM_000338.2:c.851T>A NP_000329.2:p.Val284Glu
NM_001184832.1:c.851T>A NP_001171761.1:p.Val284Glu
XM_005254605.1:c.947T>A XP_005254662.1:p.Val316Glu
XM_005254606.1:c.851T>A XP_005254663.1:p.Val284Glu
XM_006720656.1:c.947T>A XP_006720719.1:p.Val316Glu
XR_931896.1:n.1163T>A
XR_932203.1:n.229+641A>T
XR_932204.1:n.222+641A>T
XM_005254606.2:c.851T>A XP_005254663.1:p.Val284Glu
XR_001751524.2:n.230+641A>T
XR_001751525.1:n.230+641A>T
XR_002957762.1:n.230+641A>T
XR_932204.3:n.224+641A>T
NM_000338.3:c.851T>A MANE Select NP_000329.2:p.Val284Glu
NM_001184832.2:c.851T>A NP_001171761.1:p.Val284Glu
NM_001384136.1:c.851T>A NP_001371065.1:p.Val284Glu