Canonical Allele Identifier: CA2365855956

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623042C= , CM000682.2:g.44623042C= GRCh38
NC_000020.10:g.43251683C= , CM000682.1:g.43251683C= GRCh37
NC_000020.9:g.42685097C= NCBI36
NG_007385.1:g.33694G= , LRG_16:g.33694G=

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.643G= (ADA) MANE Select NP_000013.2:p.Ala215=
ENST00000372874.9:c.643G= (ADA) MANE Select ENSP00000361965.4:p.Ala215=
NM_000022.2:c.643G= , LRG_16t1:c.643G= (ADA) NP_000013.2:p.Ala215=
NM_000022.3:c.643G= (ADA) NP_000013.2:p.Ala215=
NM_001322050.1:c.238G= (ADA) NP_001308979.1:p.Ala80=
NM_001322050.2:c.238G= (ADA) NP_001308979.1:p.Ala80=
NM_001322051.1:c.607-112G= (ADA) NP_001308980.1:n.607-112G=
NM_001322051.2:c.607-112G= (ADA) NP_001308980.1:n.607-112G=
NR_136160.1:n.794G= (ADA)
NR_136160.2:n.735G= (ADA)
ENST00000372874.8:c.643G= (ADA) ENSP00000361965.4:p.Ala215=
ENST00000372887.5:c.152-891C= (PKIG) ENSP00000361978.1:n.152-891C=
ENST00000464097.5:n.317G= (ADA)
ENST00000492931.5:n.727G= (ADA)
ENST00000492931.6:n.734G= (ADA)
ENST00000536076.2:c.490G= (ADA) ENSP00000512234.1:p.Ala164=
ENST00000536532.5:c.643G= (ADA) ENSP00000440946.1:p.Ala215=
ENST00000536532.6:c.643G= (ADA) ENSP00000440946.1:p.Ala215=
ENST00000537820.1:c.607-112G= (ADA) ENSP00000441818.1:n.607-112G=
ENST00000537820.2:c.607-112G= (ADA) ENSP00000441818.1:n.607-112G=
ENST00000539235.5:c.*27G= (ADA) ENSP00000446464.1:n.*27G=
ENST00000539235.6:c.*27G= (ADA) ENSP00000446464.1:n.*27G=
ENST00000695889.1:c.219-112G= (ADA) ENSP00000512240.1:n.219-112G=
ENST00000695890.1:n.2446G= (ADA)
ENST00000695891.1:c.219-112G= (ADA) ENSP00000512241.1:n.219-112G=
ENST00000695927.1:c.721G= (ADA) ENSP00000512270.1:p.Ala241=
ENST00000695949.1:c.604-112G= (ADA) ENSP00000512281.1:n.604-112G=
ENST00000695957.1:c.*134G= (ADA) ENSP00000512286.1:n.*134G=
ENST00000695991.1:c.217-112G= (ADA) ENSP00000512314.1:n.217-112G=
ENST00000695992.1:c.643G= (ADA) ENSP00000512315.1:p.Ala215=
ENST00000695993.1:c.643G= (ADA) ENSP00000512316.1:p.Ala215=
ENST00000695994.1:c.643G= (ADA) ENSP00000512317.1:p.Ala215=
ENST00000695995.1:c.253G= (ADA) ENSP00000512318.1:p.Ala85=
ENST00000695996.1:n.714G= (ADA)
ENST00000696003.1:n.735G= (ADA)
ENST00000696004.1:n.735G= (ADA)
ENST00000696005.1:c.129-112G= (ADA)
ENST00000696006.1:c.607-112G= (ADA) ENSP00000512325.1:n.607-112G=
ENST00000696007.1:c.494G= (ADA) ENSP00000512326.1:n.494G=
ENST00000696008.1:n.2921G= (ADA)
ENST00000696017.1:c.640G= (ADA) ENSP00000512333.1:p.Ala214=
ENST00000696034.1:c.643G= (ADA) ENSP00000512343.1:p.Ala215=
ENST00000696035.1:n.753G= (ADA)
ENST00000696036.1:n.1333G= (ADA)
ENST00000696037.1:n.2320G= (ADA)
ENST00000696038.1:c.*389G= (ADA) ENSP00000512344.1:n.*389G=
ENST00000696039.1:n.931G= (ADA)
ENST00000696058.1:c.640G= (ADA) ENSP00000512361.1:p.Ala214=
ENST00000696059.1:c.*588G= (ADA) ENSP00000512362.1:n.*588G=
ENST00000696060.1:c.712G= (ADA) ENSP00000512363.1:p.Ala238=
ENST00000696061.1:c.640G= (ADA) ENSP00000512364.1:p.Ala214=
ENST00000696062.1:c.706G= (ADA) ENSP00000512365.1:p.Ala236=
ENST00000696063.1:c.718G= (ADA) ENSP00000512366.1:p.Ala240=
ENST00000696064.1:c.490G= (ADA) ENSP00000512367.1:p.Ala164=
ENST00000696065.1:c.66-112G= (ADA) ENSP00000512368.1:n.66-112G=
ENST00000696073.1:n.878G= (ADA)
ENST00000696074.1:n.259G= (ADA)
ENST00000696075.1:c.*613G= (ADA) ENSP00000512374.1:n.*613G=
ENST00000696076.1:c.712G= (ADA) ENSP00000512375.1:p.Ala238=
ENST00000696077.1:c.637G= (ADA) ENSP00000512376.1:p.Ala213=
ENST00000696078.1:c.640G= (ADA) ENSP00000512377.1:p.Ala214=
ENST00000696079.1:c.640G= (ADA) ENSP00000512378.1:p.Ala214=
ENST00000696080.1:c.643G= (ADA) ENSP00000512379.1:p.Ala215=
ENST00000696081.1:n.762G= (ADA)
ENST00000696082.1:c.718G= (ADA) ENSP00000512380.1:p.Ala240=
ENST00000696083.1:n.1524G= (ADA)
ENST00000696084.1:n.744G= (ADA)
ENST00000696104.1:c.363-112G= (ADA) ENSP00000512399.1:n.363-112G=
ENST00000696105.1:c.*184G= (ADA) ENSP00000512400.1:n.*184G=
XM_005260236.2:c.607-112G= (ADA) XP_005260293.1:n.607-112G=
XM_011528478.1:c.238G= (ADA) XP_011526780.1:p.Ala80=
XM_011528479.1:c.238G= (ADA) XP_011526781.1:p.Ala80=
XR_244129.1:n.697G= (ADA)