Canonical Allele Identifier: CA2365854995
Community Standard Title: NM_000022.4(ADA):c.872C= (p.Ser291=)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44621121G= , CM000682.2:g.44621121G= GRCh38
NC_000020.10:g.43249762G= , CM000682.1:g.43249762G= GRCh37
NC_000020.9:g.42683176G= NCBI36
NG_007385.1:g.35615C= , LRG_16:g.35615C=

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.872C= (ADA) MANE Select NP_000013.2:p.Ser291=
ENST00000372874.9:c.872C= (ADA) MANE Select ENSP00000361965.4:p.Ser291=
NM_000022.2:c.872C= , LRG_16t1:c.872C= (ADA) NP_000013.2:p.Ser291=
NM_000022.3:c.872C= (ADA) NP_000013.2:p.Ser291=
NM_001322050.1:c.467C= (ADA) NP_001308979.1:p.Ser156=
NM_001322050.2:c.467C= (ADA) NP_001308979.1:p.Ser156=
NM_001322051.1:c.800C= (ADA) NP_001308980.1:p.Ser267=
NM_001322051.2:c.800C= (ADA) NP_001308980.1:p.Ser267=
NR_136160.1:n.958C= (ADA)
NR_136160.2:n.899C= (ADA)
ENST00000372874.8:c.872C= (ADA) ENSP00000361965.4:p.Ser291=
ENST00000372887.5:c.152-2812G= (PKIG) ENSP00000361978.1:n.152-2812G=
ENST00000464097.5:n.622C= (ADA)
ENST00000492931.5:n.1032C= (ADA)
ENST00000492931.6:n.1039C= (ADA)
ENST00000536076.2:c.719C= (ADA) ENSP00000512234.1:p.Ser240=
ENST00000536532.5:c.*15C= (ADA) ENSP00000440946.1:n.*15C=
ENST00000536532.6:c.*15C= (ADA) ENSP00000440946.1:n.*15C=
ENST00000537820.1:c.800C= (ADA) ENSP00000441818.1:p.Ser267=
ENST00000537820.2:c.800C= (ADA) ENSP00000441818.1:p.Ser267=
ENST00000539235.5:c.*256C= (ADA) ENSP00000446464.1:n.*256C=
ENST00000539235.6:c.*256C= (ADA) ENSP00000446464.1:n.*256C=
ENST00000695889.1:c.347C= (ADA) ENSP00000512240.1:p.Ser116=
ENST00000695890.1:n.4367C= (ADA)
ENST00000695891.1:c.412C= (ADA) ENSP00000512241.1:p.Arg138=
ENST00000695927.1:c.950C= (ADA) ENSP00000512270.1:p.Ser317=
ENST00000695949.1:c.797C= (ADA) ENSP00000512281.1:p.Ser266=
ENST00000695956.1:c.27C= (ADA)
ENST00000695957.1:c.*363C= (ADA) ENSP00000512286.1:n.*363C=
ENST00000695991.1:c.410C= (ADA) ENSP00000512314.1:p.Ser137=
ENST00000695992.1:c.*15C= (ADA) ENSP00000512315.1:n.*15C=
ENST00000695993.1:c.872C= (ADA) ENSP00000512316.1:p.Ser291=
ENST00000695994.1:c.*15C= (ADA) ENSP00000512317.1:n.*15C=
ENST00000695995.1:c.482C= (ADA) ENSP00000512318.1:p.Ser161=
ENST00000695996.1:n.954C= (ADA)
ENST00000696003.1:n.2656C= (ADA)
ENST00000696004.1:n.1040C= (ADA)
ENST00000696005.1:c.322C= (ADA)
ENST00000696006.1:c.*15C= (ADA) ENSP00000512325.1:n.*15C=
ENST00000696007.1:c.799C= (ADA) ENSP00000512326.1:n.799C=
ENST00000696008.1:n.3226C= (ADA)
ENST00000696017.1:c.869C= (ADA) ENSP00000512333.1:p.Ser290=
ENST00000696034.1:c.*15C= (ADA) ENSP00000512343.1:n.*15C=
ENST00000696035.1:n.1058C= (ADA)
ENST00000696036.1:n.1573C= (ADA)
ENST00000696037.1:n.2549C= (ADA)
ENST00000696038.1:c.*629C= (ADA) ENSP00000512344.1:n.*629C=
ENST00000696039.1:n.1236C= (ADA)
ENST00000696058.1:c.869C= (ADA) ENSP00000512361.1:p.Ser290=
ENST00000696059.1:c.*817C= (ADA) ENSP00000512362.1:n.*817C=
ENST00000696060.1:c.941C= (ADA) ENSP00000512363.1:p.Ser314=
ENST00000696061.1:c.869C= (ADA) ENSP00000512364.1:p.Ser290=
ENST00000696062.1:c.935C= (ADA) ENSP00000512365.1:p.Ser312=
ENST00000696063.1:c.947C= (ADA) ENSP00000512366.1:p.Ser316=
ENST00000696064.1:c.719C= (ADA) ENSP00000512367.1:p.Ser240=
ENST00000696065.1:c.194C= (ADA) ENSP00000512368.1:p.Ser65=
ENST00000696072.1:n.227C= (ADA)
ENST00000696073.1:n.1183C= (ADA)
ENST00000696074.1:n.423C= (ADA)
ENST00000696075.1:c.*842C= (ADA) ENSP00000512374.1:n.*842C=
ENST00000696076.1:c.941C= (ADA) ENSP00000512375.1:p.Ser314=
ENST00000696077.1:c.866C= (ADA) ENSP00000512376.1:p.Ser289=
ENST00000696078.1:c.869C= (ADA) ENSP00000512377.1:p.Ser290=
ENST00000696079.1:c.869C= (ADA) ENSP00000512378.1:p.Ser290=
ENST00000696080.1:c.872C= (ADA) ENSP00000512379.1:p.Ser291=
ENST00000696081.1:n.991C= (ADA)
ENST00000696082.1:c.947C= (ADA) ENSP00000512380.1:p.Ser316=
ENST00000696083.1:n.1829C= (ADA)
ENST00000696084.1:n.1049C= (ADA)
ENST00000696104.1:c.556C= (ADA) ENSP00000512399.1:p.Arg186=
XM_005260236.2:c.800C= (ADA) XP_005260293.1:p.Ser267=
XM_011528478.1:c.467C= (ADA) XP_011526780.1:p.Ser156=
XM_011528479.1:c.467C= (ADA) XP_011526781.1:p.Ser156=
XR_244129.1:n.861C= (ADA)