Canonical Allele Identifier: CA392306832
Gene: SLC12A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229215A>T , CM000677.2:g.48229215A>T GRCh38
NC_000015.9:g.48521412A>T , CM000677.1:g.48521412A>T GRCh37
NC_000015.8:g.46308704A>T NCBI36
NG_021301.1:g.27915A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.751A>T ENSP00000508901.1:p.Ser251Cys
ENST00000380993.8:c.751A>T MANE Select ENSP00000370381.3:p.Ser251Cys
ENST00000646012.1:c.889A>T ENSP00000495813.1:p.Ser297Cys
ENST00000647232.1:c.751A>T ENSP00000493875.1:p.Ser251Cys
ENST00000647546.1:c.751A>T ENSP00000495332.1:p.Ser251Cys
ENST00000330289.10:c.751A>T ENSP00000331550.6:p.Ser251Cys
ENST00000380993.7:c.751A>T ENSP00000370381.3:p.Ser251Cys
ENST00000396577.7:c.751A>T ENSP00000379822.3:p.Ser251Cys
ENST00000558252.5:n.4874A>T
ENST00000558405.5:c.751A>T ENSP00000453409.1:p.Ser251Cys
ENST00000559641.5:c.190A>T ENSP00000453230.1:p.Ser64Cys
ENST00000559723.2:n.124A>T
ENST00000560692.5:n.4890A>T
ENST00000561127.5:c.190A>T ENSP00000453602.2:p.Ser64Cys
NM_000338.2:c.751A>T NP_000329.2:p.Ser251Cys
NM_001184832.1:c.751A>T NP_001171761.1:p.Ser251Cys
XM_005254605.1:c.847A>T XP_005254662.1:p.Ser283Cys
XM_005254606.1:c.751A>T XP_005254663.1:p.Ser251Cys
XM_006720656.1:c.847A>T XP_006720719.1:p.Ser283Cys
XR_931896.1:n.1063A>T
XR_932203.1:n.229+741T>A
XR_932204.1:n.222+741T>A
XM_005254606.2:c.751A>T XP_005254663.1:p.Ser251Cys
XR_001751524.2:n.230+741T>A
XR_001751525.1:n.230+741T>A
XR_002957762.1:n.230+741T>A
XR_932204.3:n.224+741T>A
NM_000338.3:c.751A>T MANE Select NP_000329.2:p.Ser251Cys
NM_001184832.2:c.751A>T NP_001171761.1:p.Ser251Cys
NM_001384136.1:c.751A>T NP_001371065.1:p.Ser251Cys