Canonical Allele Identifier: CA2365855886
Community Standard Title: NM_000022.4(ADA):c.698C= (p.Thr233=)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44622911G= , CM000682.2:g.44622911G= GRCh38
NC_000020.10:g.43251552G= , CM000682.1:g.43251552G= GRCh37
NC_000020.9:g.42684966G= NCBI36
NG_007385.1:g.33825C= , LRG_16:g.33825C=

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.698C= (ADA) MANE Select NP_000013.2:p.Thr233=
ENST00000372874.9:c.698C= (ADA) MANE Select ENSP00000361965.4:p.Thr233=
NM_000022.2:c.698C= , LRG_16t1:c.698C= (ADA) NP_000013.2:p.Thr233=
NM_000022.3:c.698C= (ADA) NP_000013.2:p.Thr233=
NM_001322050.1:c.293C= (ADA) NP_001308979.1:p.Thr98=
NM_001322050.2:c.293C= (ADA) NP_001308979.1:p.Thr98=
NM_001322051.1:c.626C= (ADA) NP_001308980.1:p.Thr209=
NM_001322051.2:c.626C= (ADA) NP_001308980.1:p.Thr209=
NR_136160.1:n.849C= (ADA)
NR_136160.2:n.790C= (ADA)
ENST00000372874.8:c.698C= (ADA) ENSP00000361965.4:p.Thr233=
ENST00000372887.5:c.152-1022G= (PKIG) ENSP00000361978.1:n.152-1022G=
ENST00000464097.5:n.448C= (ADA)
ENST00000492931.5:n.858C= (ADA)
ENST00000492931.6:n.865C= (ADA)
ENST00000536076.2:c.545C= (ADA) ENSP00000512234.1:p.Thr182=
ENST00000536532.5:c.698C= (ADA) ENSP00000440946.1:p.Thr233=
ENST00000536532.6:c.698C= (ADA) ENSP00000440946.1:p.Thr233=
ENST00000537820.1:c.626C= (ADA) ENSP00000441818.1:p.Thr209=
ENST00000537820.2:c.626C= (ADA) ENSP00000441818.1:p.Thr209=
ENST00000539235.5:c.*82C= (ADA) ENSP00000446464.1:n.*82C=
ENST00000539235.6:c.*82C= (ADA) ENSP00000446464.1:n.*82C=
ENST00000695889.1:c.238C= (ADA) ENSP00000512240.1:p.Gln80=
ENST00000695890.1:n.2577C= (ADA)
ENST00000695891.1:c.238C= (ADA) ENSP00000512241.1:p.Gln80=
ENST00000695927.1:c.776C= (ADA) ENSP00000512270.1:p.Thr259=
ENST00000695949.1:c.623C= (ADA) ENSP00000512281.1:p.Thr208=
ENST00000695957.1:c.*189C= (ADA) ENSP00000512286.1:n.*189C=
ENST00000695991.1:c.236C= (ADA) ENSP00000512314.1:p.Thr79=
ENST00000695992.1:c.698C= (ADA) ENSP00000512315.1:p.Thr233=
ENST00000695993.1:c.698C= (ADA) ENSP00000512316.1:p.Thr233=
ENST00000695994.1:c.671C= (ADA) ENSP00000512317.1:p.Thr224=
ENST00000695995.1:c.308C= (ADA) ENSP00000512318.1:p.Thr103=
ENST00000695996.1:n.845C= (ADA)
ENST00000696003.1:n.866C= (ADA)
ENST00000696004.1:n.866C= (ADA)
ENST00000696005.1:c.148C= (ADA)
ENST00000696006.1:c.626C= (ADA) ENSP00000512325.1:p.Thr209=
ENST00000696007.1:c.625C= (ADA) ENSP00000512326.1:n.625C=
ENST00000696008.1:n.3052C= (ADA)
ENST00000696017.1:c.695C= (ADA) ENSP00000512333.1:p.Thr232=
ENST00000696034.1:c.698C= (ADA) ENSP00000512343.1:p.Thr233=
ENST00000696035.1:n.884C= (ADA)
ENST00000696036.1:n.1464C= (ADA)
ENST00000696037.1:n.2375C= (ADA)
ENST00000696038.1:c.*520C= (ADA) ENSP00000512344.1:n.*520C=
ENST00000696039.1:n.1062C= (ADA)
ENST00000696058.1:c.695C= (ADA) ENSP00000512361.1:p.Thr232=
ENST00000696059.1:c.*643C= (ADA) ENSP00000512362.1:n.*643C=
ENST00000696060.1:c.767C= (ADA) ENSP00000512363.1:p.Thr256=
ENST00000696061.1:c.695C= (ADA) ENSP00000512364.1:p.Thr232=
ENST00000696062.1:c.761C= (ADA) ENSP00000512365.1:p.Thr254=
ENST00000696063.1:c.773C= (ADA) ENSP00000512366.1:p.Thr258=
ENST00000696064.1:c.545C= (ADA) ENSP00000512367.1:p.Thr182=
ENST00000696065.1:c.85C= (ADA) ENSP00000512368.1:p.Gln29=
ENST00000696073.1:n.1009C= (ADA)
ENST00000696074.1:n.314C= (ADA)
ENST00000696075.1:c.*668C= (ADA) ENSP00000512374.1:n.*668C=
ENST00000696076.1:c.767C= (ADA) ENSP00000512375.1:p.Thr256=
ENST00000696077.1:c.692C= (ADA) ENSP00000512376.1:p.Thr231=
ENST00000696078.1:c.695C= (ADA) ENSP00000512377.1:p.Thr232=
ENST00000696079.1:c.695C= (ADA) ENSP00000512378.1:p.Thr232=
ENST00000696080.1:c.698C= (ADA) ENSP00000512379.1:p.Thr233=
ENST00000696081.1:n.817C= (ADA)
ENST00000696082.1:c.773C= (ADA) ENSP00000512380.1:p.Thr258=
ENST00000696083.1:n.1655C= (ADA)
ENST00000696084.1:n.875C= (ADA)
ENST00000696104.1:c.382C= (ADA) ENSP00000512399.1:p.Gln128=
XM_005260236.2:c.626C= (ADA) XP_005260293.1:p.Thr209=
XM_011528478.1:c.293C= (ADA) XP_011526780.1:p.Thr98=
XM_011528479.1:c.293C= (ADA) XP_011526781.1:p.Thr98=
XR_244129.1:n.752C= (ADA)