Canonical Allele Identifier: CA2365856532

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624205G= , CM000682.2:g.44624205G= GRCh38
NC_000020.10:g.43252846G= , CM000682.1:g.43252846G= GRCh37
NC_000020.9:g.42686260G= NCBI36
NG_007385.1:g.32531C= , LRG_16:g.32531C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.694C= (ADA)
ENST00000536076.2:c.450C= (ADA) ENSP00000512234.1:p.Tyr150=
ENST00000536532.6:c.603C= (ADA) ENSP00000440946.1:p.Tyr201=
ENST00000537820.2:c.603C= (ADA) ENSP00000441818.1:p.Tyr201=
ENST00000539235.6:c.219-1127C= (ADA) ENSP00000446464.1:n.219-1127C=
ENST00000695889.1:c.219-1275C= (ADA) ENSP00000512240.1:n.219-1275C=
ENST00000695890.1:n.2406C= (ADA)
ENST00000695891.1:c.219-1275C= (ADA) ENSP00000512241.1:n.219-1275C=
ENST00000695927.1:c.681C= (ADA) ENSP00000512270.1:p.Tyr227=
ENST00000695949.1:c.600C= (ADA) ENSP00000512281.1:p.Tyr200=
ENST00000695957.1:c.*94C= (ADA) ENSP00000512286.1:n.*94C=
ENST00000695991.1:c.217-1275C= (ADA) ENSP00000512314.1:n.217-1275C=
ENST00000695992.1:c.603C= (ADA) ENSP00000512315.1:p.Tyr201=
ENST00000695993.1:c.603C= (ADA) ENSP00000512316.1:p.Tyr201=
ENST00000695994.1:c.603C= (ADA) ENSP00000512317.1:p.Tyr201=
ENST00000695995.1:c.217-1127C= (ADA) ENSP00000512318.1:n.217-1127C=
ENST00000695996.1:n.674C= (ADA)
ENST00000695997.1:n.558C= (ADA)
ENST00000696003.1:n.695C= (ADA)
ENST00000696004.1:n.695C= (ADA)
ENST00000696005.1:c.125C= (ADA)
ENST00000696006.1:c.603C= (ADA) ENSP00000512325.1:p.Tyr201=
ENST00000696007.1:c.454C= (ADA) ENSP00000512326.1:n.454C=
ENST00000696008.1:n.1758C= (ADA)
ENST00000696009.1:n.1953C= (ADA)
ENST00000696017.1:c.600C= (ADA) ENSP00000512333.1:p.Tyr200=
ENST00000696034.1:c.603C= (ADA) ENSP00000512343.1:p.Tyr201=
ENST00000696035.1:n.713C= (ADA)
ENST00000696036.1:n.1293C= (ADA)
ENST00000696037.1:n.2280C= (ADA)
ENST00000696038.1:c.*349C= (ADA) ENSP00000512344.1:n.*349C=
ENST00000696039.1:n.891C= (ADA)
ENST00000696058.1:c.603C= (ADA) ENSP00000512361.1:p.Tyr201=
ENST00000696059.1:c.*548C= (ADA) ENSP00000512362.1:n.*548C=
ENST00000696060.1:c.603C= (ADA) ENSP00000512363.1:p.Tyr201=
ENST00000696061.1:c.600C= (ADA) ENSP00000512364.1:p.Tyr200=
ENST00000696062.1:c.666C= (ADA) ENSP00000512365.1:p.Tyr222=
ENST00000696063.1:c.678C= (ADA) ENSP00000512366.1:p.Tyr226=
ENST00000696064.1:c.450C= (ADA) ENSP00000512367.1:p.Tyr150=
ENST00000696065.1:c.66-1275C= (ADA) ENSP00000512368.1:n.66-1275C=
ENST00000696074.1:n.219C= (ADA)
ENST00000696075.1:c.*573C= (ADA) ENSP00000512374.1:n.*573C=
ENST00000696076.1:c.603C= (ADA) ENSP00000512375.1:p.Tyr201=
ENST00000696077.1:c.600C= (ADA) ENSP00000512376.1:p.Tyr200=
ENST00000696078.1:c.603C= (ADA) ENSP00000512377.1:p.Tyr201=
ENST00000696079.1:c.603C= (ADA) ENSP00000512378.1:p.Tyr201=
ENST00000696080.1:c.603C= (ADA) ENSP00000512379.1:p.Tyr201=
ENST00000696081.1:n.722C= (ADA)
ENST00000696082.1:c.681C= (ADA) ENSP00000512380.1:p.Tyr227=
ENST00000696083.1:n.1484C= (ADA)
ENST00000696084.1:n.704C= (ADA)
ENST00000696104.1:c.363-1275C= (ADA) ENSP00000512399.1:n.363-1275C=
ENST00000696105.1:c.*144C= (ADA) ENSP00000512400.1:n.*144C=
ENST00000372874.9:c.603C= (ADA) MANE Select ENSP00000361965.4:p.Tyr201=
ENST00000372874.8:c.603C= (ADA) ENSP00000361965.4:p.Tyr201=
ENST00000372887.5:c.*229G= (PKIG) ENSP00000361978.1:n.*229G=
ENST00000464097.5:n.277C= (ADA)
ENST00000492931.5:n.687C= (ADA)
ENST00000536532.5:c.603C= (ADA) ENSP00000440946.1:p.Tyr201=
ENST00000537820.1:c.603C= (ADA) ENSP00000441818.1:p.Tyr201=
ENST00000539235.5:c.219-1127C= (ADA) ENSP00000446464.1:n.219-1127C=
NM_000022.2:c.603C= , LRG_16t1:c.603C= (ADA) NP_000013.2:p.Tyr201=
XM_005260236.2:c.603C= (ADA) XP_005260293.1:p.Tyr201=
XM_011528478.1:c.198C= (ADA) XP_011526780.1:p.Tyr66=
XM_011528479.1:c.198C= (ADA) XP_011526781.1:p.Tyr66=
XR_244129.1:n.657C= (ADA)
NM_000022.3:c.603C= (ADA) NP_000013.2:p.Tyr201=
NM_001322050.1:c.198C= (ADA) NP_001308979.1:p.Tyr66=
NM_001322051.1:c.603C= (ADA) NP_001308980.1:p.Tyr201=
NR_136160.1:n.754C= (ADA)
NM_000022.4:c.603C= (ADA) MANE Select NP_000013.2:p.Tyr201=
NM_001322050.2:c.198C= (ADA) NP_001308979.1:p.Tyr66=
NM_001322051.2:c.603C= (ADA) NP_001308980.1:p.Tyr201=
NR_136160.2:n.695C= (ADA)