Canonical Allele Identifier: CA2365856548

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624235G= , CM000682.2:g.44624235G=	GRCh38
NC_000020.10:g.43252876G= , CM000682.1:g.43252876G=	GRCh37
NC_000020.9:g.42686290G=	NCBI36
NG_007385.1:g.32501C= , LRG_16:g.32501C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.664C= (ADA)
ENST00000536076.2:c.420C= (ADA)	ENSP00000512234.1:p.Ser140=
ENST00000536532.6:c.573C= (ADA)	ENSP00000440946.1:p.Ser191=
ENST00000537820.2:c.573C= (ADA)	ENSP00000441818.1:p.Ser191=
ENST00000539235.6:c.219-1157C= (ADA)	ENSP00000446464.1:n.219-1157C=
ENST00000695889.1:c.219-1305C= (ADA)	ENSP00000512240.1:n.219-1305C=
ENST00000695890.1:n.2376C= (ADA)
ENST00000695891.1:c.219-1305C= (ADA)	ENSP00000512241.1:n.219-1305C=
ENST00000695927.1:c.651C= (ADA)	ENSP00000512270.1:p.Ser217=
ENST00000695949.1:c.570C= (ADA)	ENSP00000512281.1:p.Ser190=
ENST00000695957.1:c.*64C= (ADA)	ENSP00000512286.1:n.*64C=
ENST00000695991.1:c.217-1305C= (ADA)	ENSP00000512314.1:n.217-1305C=
ENST00000695992.1:c.573C= (ADA)	ENSP00000512315.1:p.Ser191=
ENST00000695993.1:c.573C= (ADA)	ENSP00000512316.1:p.Ser191=
ENST00000695994.1:c.573C= (ADA)	ENSP00000512317.1:p.Ser191=
ENST00000695995.1:c.217-1157C= (ADA)	ENSP00000512318.1:n.217-1157C=
ENST00000695996.1:n.644C= (ADA)
ENST00000695997.1:n.528C= (ADA)
ENST00000696003.1:n.665C= (ADA)
ENST00000696004.1:n.665C= (ADA)
ENST00000696005.1:c.95C= (ADA)
ENST00000696006.1:c.573C= (ADA)	ENSP00000512325.1:p.Ser191=
ENST00000696007.1:c.424C= (ADA)	ENSP00000512326.1:n.424C=
ENST00000696008.1:n.1728C= (ADA)
ENST00000696009.1:n.1923C= (ADA)
ENST00000696017.1:c.570C= (ADA)	ENSP00000512333.1:p.Ser190=
ENST00000696034.1:c.573C= (ADA)	ENSP00000512343.1:p.Ser191=
ENST00000696035.1:n.683C= (ADA)
ENST00000696036.1:n.1263C= (ADA)
ENST00000696037.1:n.2250C= (ADA)
ENST00000696038.1:c.*319C= (ADA)	ENSP00000512344.1:n.*319C=
ENST00000696039.1:n.861C= (ADA)
ENST00000696058.1:c.573C= (ADA)	ENSP00000512361.1:p.Ser191=
ENST00000696059.1:c.*518C= (ADA)	ENSP00000512362.1:n.*518C=
ENST00000696060.1:c.573C= (ADA)	ENSP00000512363.1:p.Ser191=
ENST00000696061.1:c.570C= (ADA)	ENSP00000512364.1:p.Ser190=
ENST00000696062.1:c.636C= (ADA)	ENSP00000512365.1:p.Ser212=
ENST00000696063.1:c.648C= (ADA)	ENSP00000512366.1:p.Ser216=
ENST00000696064.1:c.420C= (ADA)	ENSP00000512367.1:p.Ser140=
ENST00000696065.1:c.66-1305C= (ADA)	ENSP00000512368.1:n.66-1305C=
ENST00000696074.1:n.189C= (ADA)
ENST00000696075.1:c.*543C= (ADA)	ENSP00000512374.1:n.*543C=
ENST00000696076.1:c.573C= (ADA)	ENSP00000512375.1:p.Ser191=
ENST00000696077.1:c.570C= (ADA)	ENSP00000512376.1:p.Ser190=
ENST00000696078.1:c.573C= (ADA)	ENSP00000512377.1:p.Ser191=
ENST00000696079.1:c.573C= (ADA)	ENSP00000512378.1:p.Ser191=
ENST00000696080.1:c.573C= (ADA)	ENSP00000512379.1:p.Ser191=
ENST00000696081.1:n.692C= (ADA)
ENST00000696082.1:c.651C= (ADA)	ENSP00000512380.1:p.Ser217=
ENST00000696083.1:n.1454C= (ADA)
ENST00000696084.1:n.674C= (ADA)
ENST00000696104.1:c.363-1305C= (ADA)	ENSP00000512399.1:n.363-1305C=
ENST00000696105.1:c.*114C= (ADA)	ENSP00000512400.1:n.*114C=
ENST00000372874.9:c.573C= (ADA) MANE Select	ENSP00000361965.4:p.Ser191=
ENST00000372874.8:c.573C= (ADA)	ENSP00000361965.4:p.Ser191=
ENST00000372887.5:c.*259G= (PKIG)	ENSP00000361978.1:n.*259G=
ENST00000464097.5:n.247C= (ADA)
ENST00000492931.5:n.657C= (ADA)
ENST00000536532.5:c.573C= (ADA)	ENSP00000440946.1:p.Ser191=
ENST00000537820.1:c.573C= (ADA)	ENSP00000441818.1:p.Ser191=
ENST00000539235.5:c.219-1157C= (ADA)	ENSP00000446464.1:n.219-1157C=
NM_000022.2:c.573C= , LRG_16t1:c.573C= (ADA)	NP_000013.2:p.Ser191=
XM_005260236.2:c.573C= (ADA)	XP_005260293.1:p.Ser191=
XM_011528478.1:c.168C= (ADA)	XP_011526780.1:p.Ser56=
XM_011528479.1:c.168C= (ADA)	XP_011526781.1:p.Ser56=
XR_244129.1:n.627C= (ADA)
NM_000022.3:c.573C= (ADA)	NP_000013.2:p.Ser191=
NM_001322050.1:c.168C= (ADA)	NP_001308979.1:p.Ser56=
NM_001322051.1:c.573C= (ADA)	NP_001308980.1:p.Ser191=
NR_136160.1:n.724C= (ADA)
NM_000022.4:c.573C= (ADA) MANE Select	NP_000013.2:p.Ser191=
NM_001322050.2:c.168C= (ADA)	NP_001308979.1:p.Ser56=
NM_001322051.2:c.573C= (ADA)	NP_001308980.1:p.Ser191=
NR_136160.2:n.665C= (ADA)