Canonical Allele Identifier: CA2365855962

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623054G= , CM000682.2:g.44623054G= GRCh38
NC_000020.10:g.43251695G= , CM000682.1:g.43251695G= GRCh37
NC_000020.9:g.42685109G= NCBI36
NG_007385.1:g.33682C= , LRG_16:g.33682C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.722C= (ADA)
ENST00000536076.2:c.478C= (ADA) ENSP00000512234.1:p.Arg160=
ENST00000536532.6:c.631C= (ADA) ENSP00000440946.1:p.Arg211=
ENST00000537820.2:c.607-124C= (ADA) ENSP00000441818.1:n.607-124C=
ENST00000539235.6:c.*15C= (ADA) ENSP00000446464.1:n.*15C=
ENST00000695889.1:c.219-124C= (ADA) ENSP00000512240.1:n.219-124C=
ENST00000695890.1:n.2434C= (ADA)
ENST00000695891.1:c.219-124C= (ADA) ENSP00000512241.1:n.219-124C=
ENST00000695927.1:c.709C= (ADA) ENSP00000512270.1:p.Arg237=
ENST00000695949.1:c.604-124C= (ADA) ENSP00000512281.1:n.604-124C=
ENST00000695957.1:c.*122C= (ADA) ENSP00000512286.1:n.*122C=
ENST00000695991.1:c.217-124C= (ADA) ENSP00000512314.1:n.217-124C=
ENST00000695992.1:c.631C= (ADA) ENSP00000512315.1:p.Arg211=
ENST00000695993.1:c.631C= (ADA) ENSP00000512316.1:p.Arg211=
ENST00000695994.1:c.631C= (ADA) ENSP00000512317.1:p.Arg211=
ENST00000695995.1:c.241C= (ADA) ENSP00000512318.1:p.Arg81=
ENST00000695996.1:n.702C= (ADA)
ENST00000696003.1:n.723C= (ADA)
ENST00000696004.1:n.723C= (ADA)
ENST00000696005.1:c.129-124C= (ADA)
ENST00000696006.1:c.607-124C= (ADA) ENSP00000512325.1:n.607-124C=
ENST00000696007.1:c.482C= (ADA) ENSP00000512326.1:n.482C=
ENST00000696008.1:n.2909C= (ADA)
ENST00000696017.1:c.628C= (ADA) ENSP00000512333.1:p.Arg210=
ENST00000696034.1:c.631C= (ADA) ENSP00000512343.1:p.Arg211=
ENST00000696035.1:n.741C= (ADA)
ENST00000696036.1:n.1321C= (ADA)
ENST00000696037.1:n.2308C= (ADA)
ENST00000696038.1:c.*377C= (ADA) ENSP00000512344.1:n.*377C=
ENST00000696039.1:n.919C= (ADA)
ENST00000696058.1:c.628C= (ADA) ENSP00000512361.1:p.Arg210=
ENST00000696059.1:c.*576C= (ADA) ENSP00000512362.1:n.*576C=
ENST00000696060.1:c.700C= (ADA) ENSP00000512363.1:p.Arg234=
ENST00000696061.1:c.628C= (ADA) ENSP00000512364.1:p.Arg210=
ENST00000696062.1:c.694C= (ADA) ENSP00000512365.1:p.Arg232=
ENST00000696063.1:c.706C= (ADA) ENSP00000512366.1:p.Arg236=
ENST00000696064.1:c.478C= (ADA) ENSP00000512367.1:p.Arg160=
ENST00000696065.1:c.66-124C= (ADA) ENSP00000512368.1:n.66-124C=
ENST00000696073.1:n.866C= (ADA)
ENST00000696074.1:n.247C= (ADA)
ENST00000696075.1:c.*601C= (ADA) ENSP00000512374.1:n.*601C=
ENST00000696076.1:c.700C= (ADA) ENSP00000512375.1:p.Arg234=
ENST00000696077.1:c.625C= (ADA) ENSP00000512376.1:p.Arg209=
ENST00000696078.1:c.628C= (ADA) ENSP00000512377.1:p.Arg210=
ENST00000696079.1:c.628C= (ADA) ENSP00000512378.1:p.Arg210=
ENST00000696080.1:c.631C= (ADA) ENSP00000512379.1:p.Arg211=
ENST00000696081.1:n.750C= (ADA)
ENST00000696082.1:c.706C= (ADA) ENSP00000512380.1:p.Arg236=
ENST00000696083.1:n.1512C= (ADA)
ENST00000696084.1:n.732C= (ADA)
ENST00000696104.1:c.363-124C= (ADA) ENSP00000512399.1:n.363-124C=
ENST00000696105.1:c.*172C= (ADA) ENSP00000512400.1:n.*172C=
ENST00000372874.9:c.631C= (ADA) MANE Select ENSP00000361965.4:p.Arg211=
ENST00000372874.8:c.631C= (ADA) ENSP00000361965.4:p.Arg211=
ENST00000372887.5:c.152-879G= (PKIG) ENSP00000361978.1:n.152-879G=
ENST00000464097.5:n.305C= (ADA)
ENST00000492931.5:n.715C= (ADA)
ENST00000536532.5:c.631C= (ADA) ENSP00000440946.1:p.Arg211=
ENST00000537820.1:c.607-124C= (ADA) ENSP00000441818.1:n.607-124C=
ENST00000539235.5:c.*15C= (ADA) ENSP00000446464.1:n.*15C=
NM_000022.2:c.631C= , LRG_16t1:c.631C= (ADA) NP_000013.2:p.Arg211=
XM_005260236.2:c.607-124C= (ADA) XP_005260293.1:n.607-124C=
XM_011528478.1:c.226C= (ADA) XP_011526780.1:p.Arg76=
XM_011528479.1:c.226C= (ADA) XP_011526781.1:p.Arg76=
XR_244129.1:n.685C= (ADA)
NM_000022.3:c.631C= (ADA) NP_000013.2:p.Arg211=
NM_001322050.1:c.226C= (ADA) NP_001308979.1:p.Arg76=
NM_001322051.1:c.607-124C= (ADA) NP_001308980.1:n.607-124C=
NR_136160.1:n.782C= (ADA)
NM_000022.4:c.631C= (ADA) MANE Select NP_000013.2:p.Arg211=
NM_001322050.2:c.226C= (ADA) NP_001308979.1:p.Arg76=
NM_001322051.2:c.607-124C= (ADA) NP_001308980.1:n.607-124C=
NR_136160.2:n.723C= (ADA)