Canonical Allele Identifier: CA409118647

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620382G>T , CM000682.2:g.44620382G>T GRCh38
NC_000020.10:g.43249023G>T , CM000682.1:g.43249023G>T GRCh37
NC_000020.9:g.42682437G>T NCBI36
NG_007385.1:g.36354C>A , LRG_16:g.36354C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1162C>A (ADA)
ENST00000536076.2:c.842C>A (ADA) ENSP00000512234.1:p.Ser281Tyr
ENST00000536532.6:c.*138C>A (ADA) ENSP00000440946.1:n.*138C>A
ENST00000537820.2:c.923C>A (ADA) ENSP00000441818.1:p.Ser308Tyr
ENST00000539235.6:c.*379C>A (ADA) ENSP00000446464.1:n.*379C>A
ENST00000695889.1:c.470C>A (ADA) ENSP00000512240.1:p.Ser157Tyr
ENST00000695890.1:n.5106C>A (ADA)
ENST00000695891.1:c.535C>A (ADA) ENSP00000512241.1:n.535C>A
ENST00000695927.1:c.1073C>A (ADA) ENSP00000512270.1:p.Ser358Tyr
ENST00000695949.1:c.920C>A (ADA) ENSP00000512281.1:p.Ser307Tyr
ENST00000695956.1:c.150C>A (ADA)
ENST00000695957.1:c.*486C>A (ADA) ENSP00000512286.1:n.*486C>A
ENST00000695991.1:c.533C>A (ADA) ENSP00000512314.1:p.Ser178Tyr
ENST00000695992.1:c.*138C>A (ADA) ENSP00000512315.1:n.*138C>A
ENST00000695993.1:c.995C>A (ADA) ENSP00000512316.1:p.Ser332Tyr
ENST00000695994.1:c.*138C>A (ADA) ENSP00000512317.1:n.*138C>A
ENST00000695995.1:c.605C>A (ADA) ENSP00000512318.1:p.Ser202Tyr
ENST00000695996.1:n.1077C>A (ADA)
ENST00000696003.1:n.2779C>A (ADA)
ENST00000696004.1:n.1779C>A (ADA)
ENST00000696005.1:c.445C>A (ADA)
ENST00000696006.1:c.*138C>A (ADA) ENSP00000512325.1:n.*138C>A
ENST00000696007.1:c.922C>A (ADA) ENSP00000512326.1:n.922C>A
ENST00000696008.1:n.3349C>A (ADA)
ENST00000696017.1:c.992C>A (ADA) ENSP00000512333.1:p.Ser331Tyr
ENST00000696034.1:c.*138C>A (ADA) ENSP00000512343.1:n.*138C>A
ENST00000696035.1:n.1181C>A (ADA)
ENST00000696036.1:n.1696C>A (ADA)
ENST00000696037.1:n.2672C>A (ADA)
ENST00000696038.1:c.*752C>A (ADA) ENSP00000512344.1:n.*752C>A
ENST00000696039.1:n.1359C>A (ADA)
ENST00000696058.1:c.992C>A (ADA) ENSP00000512361.1:p.Ser331Tyr
ENST00000696059.1:c.*940C>A (ADA) ENSP00000512362.1:n.*940C>A
ENST00000696060.1:c.1064C>A (ADA) ENSP00000512363.1:p.Ser355Tyr
ENST00000696061.1:c.992C>A (ADA) ENSP00000512364.1:p.Ser331Tyr
ENST00000696062.1:c.1058C>A (ADA) ENSP00000512365.1:p.Ser353Tyr
ENST00000696063.1:c.1070C>A (ADA) ENSP00000512366.1:p.Ser357Tyr
ENST00000696064.1:c.842C>A (ADA) ENSP00000512367.1:p.Ser281Tyr
ENST00000696065.1:c.317C>A (ADA) ENSP00000512368.1:p.Ser106Tyr
ENST00000696072.1:n.350C>A (ADA)
ENST00000696073.1:n.1306C>A (ADA)
ENST00000696074.1:n.546C>A (ADA)
ENST00000696075.1:c.*965C>A (ADA) ENSP00000512374.1:n.*965C>A
ENST00000696076.1:c.1064C>A (ADA) ENSP00000512375.1:p.Ser355Tyr
ENST00000696077.1:c.989C>A (ADA) ENSP00000512376.1:p.Ser330Tyr
ENST00000696078.1:c.992C>A (ADA) ENSP00000512377.1:p.Ser331Tyr
ENST00000696079.1:c.992C>A (ADA) ENSP00000512378.1:p.Ser331Tyr
ENST00000696080.1:c.995C>A (ADA) ENSP00000512379.1:p.Ser332Tyr
ENST00000696081.1:n.1114C>A (ADA)
ENST00000696082.1:c.1070C>A (ADA) ENSP00000512380.1:p.Ser357Tyr
ENST00000696083.1:n.1952C>A (ADA)
ENST00000696084.1:n.1172C>A (ADA)
ENST00000696104.1:c.*64C>A (ADA) ENSP00000512399.1:n.*64C>A
ENST00000372874.9:c.995C>A (ADA) MANE Select ENSP00000361965.4:p.Ser332Tyr
ENST00000372874.8:c.995C>A (ADA) ENSP00000361965.4:p.Ser332Tyr
ENST00000372887.5:c.152-3551G>T (PKIG) ENSP00000361978.1:n.152-3551G>T
ENST00000464097.5:n.1361C>A (ADA)
ENST00000492931.5:n.1155C>A (ADA)
ENST00000536532.5:c.*138C>A (ADA) ENSP00000440946.1:n.*138C>A
ENST00000537820.1:c.923C>A (ADA) ENSP00000441818.1:p.Ser308Tyr
ENST00000539235.5:c.*379C>A (ADA) ENSP00000446464.1:n.*379C>A
NM_000022.2:c.995C>A , LRG_16t1:c.995C>A (ADA) NP_000013.2:p.Ser332Tyr
XM_005260236.2:c.923C>A (ADA) XP_005260293.1:p.Ser308Tyr
XM_011528478.1:c.590C>A (ADA) XP_011526780.1:p.Ser197Tyr
XM_011528479.1:c.590C>A (ADA) XP_011526781.1:p.Ser197Tyr
XR_244129.1:n.984C>A (ADA)
NM_000022.3:c.995C>A (ADA) NP_000013.2:p.Ser332Tyr
NM_001322050.1:c.590C>A (ADA) NP_001308979.1:p.Ser197Tyr
NM_001322051.1:c.923C>A (ADA) NP_001308980.1:p.Ser308Tyr
NR_136160.1:n.1081C>A (ADA)
NM_000022.4:c.995C>A (ADA) MANE Select NP_000013.2:p.Ser332Tyr
NM_001322050.2:c.590C>A (ADA) NP_001308979.1:p.Ser197Tyr
NM_001322051.2:c.923C>A (ADA) NP_001308980.1:p.Ser308Tyr
NR_136160.2:n.1022C>A (ADA)