Canonical Allele Identifier: CA2365854601

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620324A= , CM000682.2:g.44620324A=	GRCh38
NC_000020.10:g.43248965A= , CM000682.1:g.43248965A=	GRCh37
NC_000020.9:g.42682379A=	NCBI36
NG_007385.1:g.36412T= , LRG_16:g.36412T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1220T= (ADA)
ENST00000536076.2:c.900T= (ADA)	ENSP00000512234.1:p.Tyr300=
ENST00000536532.6:c.*196T= (ADA)	ENSP00000440946.1:n.*196T=
ENST00000537820.2:c.981T= (ADA)	ENSP00000441818.1:p.Tyr327=
ENST00000539235.6:c.*437T= (ADA)	ENSP00000446464.1:n.*437T=
ENST00000695889.1:c.528T= (ADA)	ENSP00000512240.1:p.Tyr176=
ENST00000695890.1:n.5164T= (ADA)
ENST00000695891.1:c.593T= (ADA)	ENSP00000512241.1:n.593T=
ENST00000695927.1:c.1131T= (ADA)	ENSP00000512270.1:p.Tyr377=
ENST00000695949.1:c.978T= (ADA)	ENSP00000512281.1:p.Tyr326=
ENST00000695956.1:c.208T= (ADA)
ENST00000695957.1:c.*544T= (ADA)	ENSP00000512286.1:n.*544T=
ENST00000695991.1:c.591T= (ADA)	ENSP00000512314.1:p.Tyr197=
ENST00000695992.1:c.*196T= (ADA)	ENSP00000512315.1:n.*196T=
ENST00000695993.1:c.1053T= (ADA)	ENSP00000512316.1:p.Tyr351=
ENST00000695994.1:c.*196T= (ADA)	ENSP00000512317.1:n.*196T=
ENST00000695995.1:c.663T= (ADA)	ENSP00000512318.1:p.Tyr221=
ENST00000695996.1:n.1135T= (ADA)
ENST00000696003.1:n.2837T= (ADA)
ENST00000696004.1:n.1837T= (ADA)
ENST00000696005.1:c.503T= (ADA)
ENST00000696006.1:c.*196T= (ADA)	ENSP00000512325.1:n.*196T=
ENST00000696007.1:c.980T= (ADA)	ENSP00000512326.1:n.980T=
ENST00000696008.1:n.3407T= (ADA)
ENST00000696017.1:c.1050T= (ADA)	ENSP00000512333.1:p.Tyr350=
ENST00000696034.1:c.*196T= (ADA)	ENSP00000512343.1:n.*196T=
ENST00000696035.1:n.1239T= (ADA)
ENST00000696036.1:n.1754T= (ADA)
ENST00000696037.1:n.2730T= (ADA)
ENST00000696038.1:c.*810T= (ADA)	ENSP00000512344.1:n.*810T=
ENST00000696039.1:n.1417T= (ADA)
ENST00000696058.1:c.1050T= (ADA)	ENSP00000512361.1:p.Tyr350=
ENST00000696059.1:c.*998T= (ADA)	ENSP00000512362.1:n.*998T=
ENST00000696060.1:c.1122T= (ADA)	ENSP00000512363.1:p.Tyr374=
ENST00000696061.1:c.1050T= (ADA)	ENSP00000512364.1:p.Tyr350=
ENST00000696062.1:c.1116T= (ADA)	ENSP00000512365.1:p.Tyr372=
ENST00000696063.1:c.1128T= (ADA)	ENSP00000512366.1:p.Tyr376=
ENST00000696064.1:c.900T= (ADA)	ENSP00000512367.1:p.Tyr300=
ENST00000696065.1:c.375T= (ADA)	ENSP00000512368.1:p.Tyr125=
ENST00000696072.1:n.408T= (ADA)
ENST00000696073.1:n.1364T= (ADA)
ENST00000696074.1:n.604T= (ADA)
ENST00000696075.1:c.*1023T= (ADA)	ENSP00000512374.1:n.*1023T=
ENST00000696076.1:c.1122T= (ADA)	ENSP00000512375.1:p.Tyr374=
ENST00000696077.1:c.1047T= (ADA)	ENSP00000512376.1:p.Tyr349=
ENST00000696078.1:c.1050T= (ADA)	ENSP00000512377.1:p.Tyr350=
ENST00000696079.1:c.1050T= (ADA)	ENSP00000512378.1:p.Tyr350=
ENST00000696080.1:c.1053T= (ADA)	ENSP00000512379.1:p.Tyr351=
ENST00000696081.1:n.1172T= (ADA)
ENST00000696082.1:c.1128T= (ADA)	ENSP00000512380.1:p.Tyr376=
ENST00000696083.1:n.2010T= (ADA)
ENST00000696084.1:n.1230T= (ADA)
ENST00000696104.1:c.*122T= (ADA)	ENSP00000512399.1:n.*122T=
ENST00000372874.9:c.1053T= (ADA) MANE Select	ENSP00000361965.4:p.Tyr351=
ENST00000372874.8:c.1053T= (ADA)	ENSP00000361965.4:p.Tyr351=
ENST00000372887.5:c.152-3609A= (PKIG)	ENSP00000361978.1:n.152-3609A=
ENST00000464097.5:n.1419T= (ADA)
ENST00000492931.5:n.1213T= (ADA)
ENST00000536532.5:c.*196T= (ADA)	ENSP00000440946.1:n.*196T=
ENST00000537820.1:c.981T= (ADA)	ENSP00000441818.1:p.Tyr327=
ENST00000539235.5:c.*437T= (ADA)	ENSP00000446464.1:n.*437T=
NM_000022.2:c.1053T= , LRG_16t1:c.1053T= (ADA)	NP_000013.2:p.Tyr351=
XM_005260236.2:c.981T= (ADA)	XP_005260293.1:p.Tyr327=
XM_011528478.1:c.648T= (ADA)	XP_011526780.1:p.Tyr216=
XM_011528479.1:c.648T= (ADA)	XP_011526781.1:p.Tyr216=
XR_244129.1:n.1042T= (ADA)
NM_000022.3:c.1053T= (ADA)	NP_000013.2:p.Tyr351=
NM_001322050.1:c.648T= (ADA)	NP_001308979.1:p.Tyr216=
NM_001322051.1:c.981T= (ADA)	NP_001308980.1:p.Tyr327=
NR_136160.1:n.1139T= (ADA)
NM_000022.4:c.1053T= (ADA) MANE Select	NP_000013.2:p.Tyr351=
NM_001322050.2:c.648T= (ADA)	NP_001308979.1:p.Tyr216=
NM_001322051.2:c.981T= (ADA)	NP_001308980.1:p.Tyr327=
NR_136160.2:n.1080T= (ADA)