Canonical Allele Identifier: CA2365854594

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620312A= , CM000682.2:g.44620312A=	GRCh38
NC_000020.10:g.43248953A= , CM000682.1:g.43248953A=	GRCh37
NC_000020.9:g.42682367A=	NCBI36
NG_007385.1:g.36424T= , LRG_16:g.36424T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1232T= (ADA)
ENST00000536076.2:c.912T= (ADA)	ENSP00000512234.1:p.Pro304=
ENST00000536532.6:c.*208T= (ADA)	ENSP00000440946.1:n.*208T=
ENST00000537820.2:c.993T= (ADA)	ENSP00000441818.1:p.Pro331=
ENST00000539235.6:c.*449T= (ADA)	ENSP00000446464.1:n.*449T=
ENST00000695889.1:c.540T= (ADA)	ENSP00000512240.1:p.Pro180=
ENST00000695890.1:n.5176T= (ADA)
ENST00000695891.1:c.605T= (ADA)	ENSP00000512241.1:n.605T=
ENST00000695927.1:c.1143T= (ADA)	ENSP00000512270.1:p.Pro381=
ENST00000695949.1:c.990T= (ADA)	ENSP00000512281.1:p.Pro330=
ENST00000695956.1:c.220T= (ADA)
ENST00000695957.1:c.*556T= (ADA)	ENSP00000512286.1:n.*556T=
ENST00000695991.1:c.603T= (ADA)	ENSP00000512314.1:p.Pro201=
ENST00000695992.1:c.*208T= (ADA)	ENSP00000512315.1:n.*208T=
ENST00000695993.1:c.1065T= (ADA)	ENSP00000512316.1:p.Pro355=
ENST00000695994.1:c.*208T= (ADA)	ENSP00000512317.1:n.*208T=
ENST00000695995.1:c.675T= (ADA)	ENSP00000512318.1:p.Pro225=
ENST00000695996.1:n.1147T= (ADA)
ENST00000696003.1:n.2849T= (ADA)
ENST00000696004.1:n.1849T= (ADA)
ENST00000696005.1:c.515T= (ADA)
ENST00000696006.1:c.*208T= (ADA)	ENSP00000512325.1:n.*208T=
ENST00000696007.1:c.992T= (ADA)	ENSP00000512326.1:n.992T=
ENST00000696008.1:n.3419T= (ADA)
ENST00000696017.1:c.1062T= (ADA)	ENSP00000512333.1:p.Pro354=
ENST00000696034.1:c.*208T= (ADA)	ENSP00000512343.1:n.*208T=
ENST00000696035.1:n.1251T= (ADA)
ENST00000696036.1:n.1766T= (ADA)
ENST00000696037.1:n.2742T= (ADA)
ENST00000696038.1:c.*822T= (ADA)	ENSP00000512344.1:n.*822T=
ENST00000696039.1:n.1429T= (ADA)
ENST00000696058.1:c.1062T= (ADA)	ENSP00000512361.1:p.Pro354=
ENST00000696059.1:c.*1010T= (ADA)	ENSP00000512362.1:n.*1010T=
ENST00000696060.1:c.1134T= (ADA)	ENSP00000512363.1:p.Pro378=
ENST00000696061.1:c.1062T= (ADA)	ENSP00000512364.1:p.Pro354=
ENST00000696062.1:c.1128T= (ADA)	ENSP00000512365.1:p.Pro376=
ENST00000696063.1:c.1140T= (ADA)	ENSP00000512366.1:p.Pro380=
ENST00000696064.1:c.912T= (ADA)	ENSP00000512367.1:p.Pro304=
ENST00000696065.1:c.387T= (ADA)	ENSP00000512368.1:p.Pro129=
ENST00000696072.1:n.420T= (ADA)
ENST00000696073.1:n.1376T= (ADA)
ENST00000696074.1:n.616T= (ADA)
ENST00000696075.1:c.*1035T= (ADA)	ENSP00000512374.1:n.*1035T=
ENST00000696076.1:c.1134T= (ADA)	ENSP00000512375.1:p.Pro378=
ENST00000696077.1:c.1059T= (ADA)	ENSP00000512376.1:p.Pro353=
ENST00000696078.1:c.1062T= (ADA)	ENSP00000512377.1:p.Pro354=
ENST00000696079.1:c.1062T= (ADA)	ENSP00000512378.1:p.Pro354=
ENST00000696080.1:c.1065T= (ADA)	ENSP00000512379.1:p.Pro355=
ENST00000696081.1:n.1184T= (ADA)
ENST00000696082.1:c.1140T= (ADA)	ENSP00000512380.1:p.Pro380=
ENST00000696083.1:n.2022T= (ADA)
ENST00000696084.1:n.1242T= (ADA)
ENST00000696104.1:c.*134T= (ADA)	ENSP00000512399.1:n.*134T=
ENST00000372874.9:c.1065T= (ADA) MANE Select	ENSP00000361965.4:p.Pro355=
ENST00000372874.8:c.1065T= (ADA)	ENSP00000361965.4:p.Pro355=
ENST00000372887.5:c.152-3621A= (PKIG)	ENSP00000361978.1:n.152-3621A=
ENST00000464097.5:n.1431T= (ADA)
ENST00000492931.5:n.1225T= (ADA)
ENST00000536532.5:c.*208T= (ADA)	ENSP00000440946.1:n.*208T=
ENST00000537820.1:c.993T= (ADA)	ENSP00000441818.1:p.Pro331=
ENST00000539235.5:c.*449T= (ADA)	ENSP00000446464.1:n.*449T=
NM_000022.2:c.1065T= , LRG_16t1:c.1065T= (ADA)	NP_000013.2:p.Pro355=
XM_005260236.2:c.993T= (ADA)	XP_005260293.1:p.Pro331=
XM_011528478.1:c.660T= (ADA)	XP_011526780.1:p.Pro220=
XM_011528479.1:c.660T= (ADA)	XP_011526781.1:p.Pro220=
XR_244129.1:n.1054T= (ADA)
NM_000022.3:c.1065T= (ADA)	NP_000013.2:p.Pro355=
NM_001322050.1:c.660T= (ADA)	NP_001308979.1:p.Pro220=
NM_001322051.1:c.993T= (ADA)	NP_001308980.1:p.Pro331=
NR_136160.1:n.1151T= (ADA)
NM_000022.4:c.1065T= (ADA) MANE Select	NP_000013.2:p.Pro355=
NM_001322050.2:c.660T= (ADA)	NP_001308979.1:p.Pro220=
NM_001322051.2:c.993T= (ADA)	NP_001308980.1:p.Pro331=
NR_136160.2:n.1092T= (ADA)