Canonical Allele Identifier: CA392306836
Gene: SLC12A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229216G>C , CM000677.2:g.48229216G>C GRCh38
NC_000015.9:g.48521413G>C , CM000677.1:g.48521413G>C GRCh37
NC_000015.8:g.46308705G>C NCBI36
NG_021301.1:g.27916G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.752G>C ENSP00000508901.1:p.Ser251Thr
ENST00000380993.8:c.752G>C MANE Select ENSP00000370381.3:p.Ser251Thr
ENST00000646012.1:c.890G>C ENSP00000495813.1:p.Ser297Thr
ENST00000647232.1:c.752G>C ENSP00000493875.1:p.Ser251Thr
ENST00000647546.1:c.752G>C ENSP00000495332.1:p.Ser251Thr
ENST00000330289.10:c.752G>C ENSP00000331550.6:p.Ser251Thr
ENST00000380993.7:c.752G>C ENSP00000370381.3:p.Ser251Thr
ENST00000396577.7:c.752G>C ENSP00000379822.3:p.Ser251Thr
ENST00000558252.5:n.4875G>C
ENST00000558405.5:c.752G>C ENSP00000453409.1:p.Ser251Thr
ENST00000559641.5:c.191G>C ENSP00000453230.1:p.Ser64Thr
ENST00000559723.2:n.125G>C
ENST00000560692.5:n.4891G>C
ENST00000561127.5:c.191G>C ENSP00000453602.2:p.Ser64Thr
NM_000338.2:c.752G>C NP_000329.2:p.Ser251Thr
NM_001184832.1:c.752G>C NP_001171761.1:p.Ser251Thr
XM_005254605.1:c.848G>C XP_005254662.1:p.Ser283Thr
XM_005254606.1:c.752G>C XP_005254663.1:p.Ser251Thr
XM_006720656.1:c.848G>C XP_006720719.1:p.Ser283Thr
XR_931896.1:n.1064G>C
XR_932203.1:n.229+740C>G
XR_932204.1:n.222+740C>G
XM_005254606.2:c.752G>C XP_005254663.1:p.Ser251Thr
XR_001751524.2:n.230+740C>G
XR_001751525.1:n.230+740C>G
XR_002957762.1:n.230+740C>G
XR_932204.3:n.224+740C>G
NM_000338.3:c.752G>C MANE Select NP_000329.2:p.Ser251Thr
NM_001184832.2:c.752G>C NP_001171761.1:p.Ser251Thr
NM_001384136.1:c.752G>C NP_001371065.1:p.Ser251Thr