Canonical Allele Identifier: CA409120842
Gene: ADA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624253A>T , CM000682.2:g.44624253A>T GRCh38
NC_000020.10:g.43252894A>T , CM000682.1:g.43252894A>T GRCh37
NC_000020.9:g.42686308A>T NCBI36
NG_007385.1:g.32483T>A , LRG_16:g.32483T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.646T>A
ENST00000536076.2:c.402T>A ENSP00000512234.1:p.Asp134Glu
ENST00000536532.6:c.555T>A ENSP00000440946.1:p.Asp185Glu
ENST00000537820.2:c.555T>A ENSP00000441818.1:p.Asp185Glu
ENST00000539235.6:c.219-1175T>A ENSP00000446464.1:n.219-1175T>A
ENST00000695889.1:c.219-1323T>A ENSP00000512240.1:n.219-1323T>A
ENST00000695890.1:n.2358T>A
ENST00000695891.1:c.219-1323T>A ENSP00000512241.1:n.219-1323T>A
ENST00000695927.1:c.633T>A ENSP00000512270.1:p.Asp211Glu
ENST00000695949.1:c.552T>A ENSP00000512281.1:p.Asp184Glu
ENST00000695957.1:c.*46T>A ENSP00000512286.1:n.*46T>A
ENST00000695991.1:c.217-1323T>A ENSP00000512314.1:n.217-1323T>A
ENST00000695992.1:c.555T>A ENSP00000512315.1:p.Asp185Glu
ENST00000695993.1:c.555T>A ENSP00000512316.1:p.Asp185Glu
ENST00000695994.1:c.555T>A ENSP00000512317.1:p.Asp185Glu
ENST00000695995.1:c.217-1175T>A ENSP00000512318.1:n.217-1175T>A
ENST00000695996.1:n.626T>A
ENST00000695997.1:n.510T>A
ENST00000696003.1:n.647T>A
ENST00000696004.1:n.647T>A
ENST00000696005.1:c.77T>A
ENST00000696006.1:c.555T>A ENSP00000512325.1:p.Asp185Glu
ENST00000696007.1:c.406T>A ENSP00000512326.1:n.406T>A
ENST00000696008.1:n.1710T>A
ENST00000696009.1:n.1905T>A
ENST00000696017.1:c.552T>A ENSP00000512333.1:p.Asp184Glu
ENST00000696034.1:c.555T>A ENSP00000512343.1:p.Asp185Glu
ENST00000696035.1:n.665T>A
ENST00000696036.1:n.1245T>A
ENST00000696037.1:n.2232T>A
ENST00000696038.1:c.*301T>A ENSP00000512344.1:n.*301T>A
ENST00000696039.1:n.843T>A
ENST00000696058.1:c.555T>A ENSP00000512361.1:p.Asp185Glu
ENST00000696059.1:c.*500T>A ENSP00000512362.1:n.*500T>A
ENST00000696060.1:c.555T>A ENSP00000512363.1:p.Asp185Glu
ENST00000696061.1:c.552T>A ENSP00000512364.1:p.Asp184Glu
ENST00000696062.1:c.618T>A ENSP00000512365.1:p.Asp206Glu
ENST00000696063.1:c.630T>A ENSP00000512366.1:p.Asp210Glu
ENST00000696064.1:c.402T>A ENSP00000512367.1:p.Asp134Glu
ENST00000696065.1:c.66-1323T>A ENSP00000512368.1:n.66-1323T>A
ENST00000696074.1:n.171T>A
ENST00000696075.1:c.*525T>A ENSP00000512374.1:n.*525T>A
ENST00000696076.1:c.555T>A ENSP00000512375.1:p.Asp185Glu
ENST00000696077.1:c.552T>A ENSP00000512376.1:p.Asp184Glu
ENST00000696078.1:c.555T>A ENSP00000512377.1:p.Asp185Glu
ENST00000696079.1:c.555T>A ENSP00000512378.1:p.Asp185Glu
ENST00000696080.1:c.555T>A ENSP00000512379.1:p.Asp185Glu
ENST00000696081.1:n.674T>A
ENST00000696082.1:c.633T>A ENSP00000512380.1:p.Asp211Glu
ENST00000696083.1:n.1436T>A
ENST00000696084.1:n.656T>A
ENST00000696104.1:c.363-1323T>A ENSP00000512399.1:n.363-1323T>A
ENST00000696105.1:c.*96T>A ENSP00000512400.1:n.*96T>A
ENST00000372874.9:c.555T>A MANE Select ENSP00000361965.4:p.Asp185Glu
ENST00000372874.8:c.555T>A ENSP00000361965.4:p.Asp185Glu
ENST00000464097.5:n.229T>A
ENST00000492931.5:n.639T>A
ENST00000536532.5:c.555T>A ENSP00000440946.1:p.Asp185Glu
ENST00000537820.1:c.555T>A ENSP00000441818.1:p.Asp185Glu
ENST00000539235.5:c.219-1175T>A ENSP00000446464.1:n.219-1175T>A
NM_000022.2:c.555T>A , LRG_16t1:c.555T>A NP_000013.2:p.Asp185Glu
XM_005260236.2:c.555T>A XP_005260293.1:p.Asp185Glu
XM_011528478.1:c.150T>A XP_011526780.1:p.Asp50Glu
XM_011528479.1:c.150T>A XP_011526781.1:p.Asp50Glu
XR_244129.1:n.609T>A
NM_000022.3:c.555T>A NP_000013.2:p.Asp185Glu
NM_001322050.1:c.150T>A NP_001308979.1:p.Asp50Glu
NM_001322051.1:c.555T>A NP_001308980.1:p.Asp185Glu
NR_136160.1:n.706T>A
NM_000022.4:c.555T>A MANE Select NP_000013.2:p.Asp185Glu
NM_001322050.2:c.150T>A NP_001308979.1:p.Asp50Glu
NM_001322051.2:c.555T>A NP_001308980.1:p.Asp185Glu
NR_136160.2:n.647T>A