Canonical Allele Identifier: CA2365854596

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620314G= , CM000682.2:g.44620314G=	GRCh38
NC_000020.10:g.43248955G= , CM000682.1:g.43248955G=	GRCh37
NC_000020.9:g.42682369G=	NCBI36
NG_007385.1:g.36422C= , LRG_16:g.36422C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1230C= (ADA)
ENST00000536076.2:c.910C= (ADA)	ENSP00000512234.1:p.Pro304=
ENST00000536532.6:c.*206C= (ADA)	ENSP00000440946.1:n.*206C=
ENST00000537820.2:c.991C= (ADA)	ENSP00000441818.1:p.Pro331=
ENST00000539235.6:c.*447C= (ADA)	ENSP00000446464.1:n.*447C=
ENST00000695889.1:c.538C= (ADA)	ENSP00000512240.1:p.Pro180=
ENST00000695890.1:n.5174C= (ADA)
ENST00000695891.1:c.603C= (ADA)	ENSP00000512241.1:n.603C=
ENST00000695927.1:c.1141C= (ADA)	ENSP00000512270.1:p.Pro381=
ENST00000695949.1:c.988C= (ADA)	ENSP00000512281.1:p.Pro330=
ENST00000695956.1:c.218C= (ADA)
ENST00000695957.1:c.*554C= (ADA)	ENSP00000512286.1:n.*554C=
ENST00000695991.1:c.601C= (ADA)	ENSP00000512314.1:p.Pro201=
ENST00000695992.1:c.*206C= (ADA)	ENSP00000512315.1:n.*206C=
ENST00000695993.1:c.1063C= (ADA)	ENSP00000512316.1:p.Pro355=
ENST00000695994.1:c.*206C= (ADA)	ENSP00000512317.1:n.*206C=
ENST00000695995.1:c.673C= (ADA)	ENSP00000512318.1:p.Pro225=
ENST00000695996.1:n.1145C= (ADA)
ENST00000696003.1:n.2847C= (ADA)
ENST00000696004.1:n.1847C= (ADA)
ENST00000696005.1:c.513C= (ADA)
ENST00000696006.1:c.*206C= (ADA)	ENSP00000512325.1:n.*206C=
ENST00000696007.1:c.990C= (ADA)	ENSP00000512326.1:n.990C=
ENST00000696008.1:n.3417C= (ADA)
ENST00000696017.1:c.1060C= (ADA)	ENSP00000512333.1:p.Pro354=
ENST00000696034.1:c.*206C= (ADA)	ENSP00000512343.1:n.*206C=
ENST00000696035.1:n.1249C= (ADA)
ENST00000696036.1:n.1764C= (ADA)
ENST00000696037.1:n.2740C= (ADA)
ENST00000696038.1:c.*820C= (ADA)	ENSP00000512344.1:n.*820C=
ENST00000696039.1:n.1427C= (ADA)
ENST00000696058.1:c.1060C= (ADA)	ENSP00000512361.1:p.Pro354=
ENST00000696059.1:c.*1008C= (ADA)	ENSP00000512362.1:n.*1008C=
ENST00000696060.1:c.1132C= (ADA)	ENSP00000512363.1:p.Pro378=
ENST00000696061.1:c.1060C= (ADA)	ENSP00000512364.1:p.Pro354=
ENST00000696062.1:c.1126C= (ADA)	ENSP00000512365.1:p.Pro376=
ENST00000696063.1:c.1138C= (ADA)	ENSP00000512366.1:p.Pro380=
ENST00000696064.1:c.910C= (ADA)	ENSP00000512367.1:p.Pro304=
ENST00000696065.1:c.385C= (ADA)	ENSP00000512368.1:p.Pro129=
ENST00000696072.1:n.418C= (ADA)
ENST00000696073.1:n.1374C= (ADA)
ENST00000696074.1:n.614C= (ADA)
ENST00000696075.1:c.*1033C= (ADA)	ENSP00000512374.1:n.*1033C=
ENST00000696076.1:c.1132C= (ADA)	ENSP00000512375.1:p.Pro378=
ENST00000696077.1:c.1057C= (ADA)	ENSP00000512376.1:p.Pro353=
ENST00000696078.1:c.1060C= (ADA)	ENSP00000512377.1:p.Pro354=
ENST00000696079.1:c.1060C= (ADA)	ENSP00000512378.1:p.Pro354=
ENST00000696080.1:c.1063C= (ADA)	ENSP00000512379.1:p.Pro355=
ENST00000696081.1:n.1182C= (ADA)
ENST00000696082.1:c.1138C= (ADA)	ENSP00000512380.1:p.Pro380=
ENST00000696083.1:n.2020C= (ADA)
ENST00000696084.1:n.1240C= (ADA)
ENST00000696104.1:c.*132C= (ADA)	ENSP00000512399.1:n.*132C=
ENST00000372874.9:c.1063C= (ADA) MANE Select	ENSP00000361965.4:p.Pro355=
ENST00000372874.8:c.1063C= (ADA)	ENSP00000361965.4:p.Pro355=
ENST00000372887.5:c.152-3619G= (PKIG)	ENSP00000361978.1:n.152-3619G=
ENST00000464097.5:n.1429C= (ADA)
ENST00000492931.5:n.1223C= (ADA)
ENST00000536532.5:c.*206C= (ADA)	ENSP00000440946.1:n.*206C=
ENST00000537820.1:c.991C= (ADA)	ENSP00000441818.1:p.Pro331=
ENST00000539235.5:c.*447C= (ADA)	ENSP00000446464.1:n.*447C=
NM_000022.2:c.1063C= , LRG_16t1:c.1063C= (ADA)	NP_000013.2:p.Pro355=
XM_005260236.2:c.991C= (ADA)	XP_005260293.1:p.Pro331=
XM_011528478.1:c.658C= (ADA)	XP_011526780.1:p.Pro220=
XM_011528479.1:c.658C= (ADA)	XP_011526781.1:p.Pro220=
XR_244129.1:n.1052C= (ADA)
NM_000022.3:c.1063C= (ADA)	NP_000013.2:p.Pro355=
NM_001322050.1:c.658C= (ADA)	NP_001308979.1:p.Pro220=
NM_001322051.1:c.991C= (ADA)	NP_001308980.1:p.Pro331=
NR_136160.1:n.1149C= (ADA)
NM_000022.4:c.1063C= (ADA) MANE Select	NP_000013.2:p.Pro355=
NM_001322050.2:c.658C= (ADA)	NP_001308979.1:p.Pro220=
NM_001322051.2:c.991C= (ADA)	NP_001308980.1:p.Pro331=
NR_136160.2:n.1090C= (ADA)