Canonical Allele Identifier: CA2365856536

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624214G= , CM000682.2:g.44624214G=	GRCh38
NC_000020.10:g.43252855G= , CM000682.1:g.43252855G=	GRCh37
NC_000020.9:g.42686269G=	NCBI36
NG_007385.1:g.32522C= , LRG_16:g.32522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.685C= (ADA)
ENST00000536076.2:c.441C= (ADA)	ENSP00000512234.1:p.Val147=
ENST00000536532.6:c.594C= (ADA)	ENSP00000440946.1:p.Val198=
ENST00000537820.2:c.594C= (ADA)	ENSP00000441818.1:p.Val198=
ENST00000539235.6:c.219-1136C= (ADA)	ENSP00000446464.1:n.219-1136C=
ENST00000695889.1:c.219-1284C= (ADA)	ENSP00000512240.1:n.219-1284C=
ENST00000695890.1:n.2397C= (ADA)
ENST00000695891.1:c.219-1284C= (ADA)	ENSP00000512241.1:n.219-1284C=
ENST00000695927.1:c.672C= (ADA)	ENSP00000512270.1:p.Val224=
ENST00000695949.1:c.591C= (ADA)	ENSP00000512281.1:p.Val197=
ENST00000695957.1:c.*85C= (ADA)	ENSP00000512286.1:n.*85C=
ENST00000695991.1:c.217-1284C= (ADA)	ENSP00000512314.1:n.217-1284C=
ENST00000695992.1:c.594C= (ADA)	ENSP00000512315.1:p.Val198=
ENST00000695993.1:c.594C= (ADA)	ENSP00000512316.1:p.Val198=
ENST00000695994.1:c.594C= (ADA)	ENSP00000512317.1:p.Val198=
ENST00000695995.1:c.217-1136C= (ADA)	ENSP00000512318.1:n.217-1136C=
ENST00000695996.1:n.665C= (ADA)
ENST00000695997.1:n.549C= (ADA)
ENST00000696003.1:n.686C= (ADA)
ENST00000696004.1:n.686C= (ADA)
ENST00000696005.1:c.116C= (ADA)
ENST00000696006.1:c.594C= (ADA)	ENSP00000512325.1:p.Val198=
ENST00000696007.1:c.445C= (ADA)	ENSP00000512326.1:n.445C=
ENST00000696008.1:n.1749C= (ADA)
ENST00000696009.1:n.1944C= (ADA)
ENST00000696017.1:c.591C= (ADA)	ENSP00000512333.1:p.Val197=
ENST00000696034.1:c.594C= (ADA)	ENSP00000512343.1:p.Val198=
ENST00000696035.1:n.704C= (ADA)
ENST00000696036.1:n.1284C= (ADA)
ENST00000696037.1:n.2271C= (ADA)
ENST00000696038.1:c.*340C= (ADA)	ENSP00000512344.1:n.*340C=
ENST00000696039.1:n.882C= (ADA)
ENST00000696058.1:c.594C= (ADA)	ENSP00000512361.1:p.Val198=
ENST00000696059.1:c.*539C= (ADA)	ENSP00000512362.1:n.*539C=
ENST00000696060.1:c.594C= (ADA)	ENSP00000512363.1:p.Val198=
ENST00000696061.1:c.591C= (ADA)	ENSP00000512364.1:p.Val197=
ENST00000696062.1:c.657C= (ADA)	ENSP00000512365.1:p.Val219=
ENST00000696063.1:c.669C= (ADA)	ENSP00000512366.1:p.Val223=
ENST00000696064.1:c.441C= (ADA)	ENSP00000512367.1:p.Val147=
ENST00000696065.1:c.66-1284C= (ADA)	ENSP00000512368.1:n.66-1284C=
ENST00000696074.1:n.210C= (ADA)
ENST00000696075.1:c.*564C= (ADA)	ENSP00000512374.1:n.*564C=
ENST00000696076.1:c.594C= (ADA)	ENSP00000512375.1:p.Val198=
ENST00000696077.1:c.591C= (ADA)	ENSP00000512376.1:p.Val197=
ENST00000696078.1:c.594C= (ADA)	ENSP00000512377.1:p.Val198=
ENST00000696079.1:c.594C= (ADA)	ENSP00000512378.1:p.Val198=
ENST00000696080.1:c.594C= (ADA)	ENSP00000512379.1:p.Val198=
ENST00000696081.1:n.713C= (ADA)
ENST00000696082.1:c.672C= (ADA)	ENSP00000512380.1:p.Val224=
ENST00000696083.1:n.1475C= (ADA)
ENST00000696084.1:n.695C= (ADA)
ENST00000696104.1:c.363-1284C= (ADA)	ENSP00000512399.1:n.363-1284C=
ENST00000696105.1:c.*135C= (ADA)	ENSP00000512400.1:n.*135C=
ENST00000372874.9:c.594C= (ADA) MANE Select	ENSP00000361965.4:p.Val198=
ENST00000372874.8:c.594C= (ADA)	ENSP00000361965.4:p.Val198=
ENST00000372887.5:c.*238G= (PKIG)	ENSP00000361978.1:n.*238G=
ENST00000464097.5:n.268C= (ADA)
ENST00000492931.5:n.678C= (ADA)
ENST00000536532.5:c.594C= (ADA)	ENSP00000440946.1:p.Val198=
ENST00000537820.1:c.594C= (ADA)	ENSP00000441818.1:p.Val198=
ENST00000539235.5:c.219-1136C= (ADA)	ENSP00000446464.1:n.219-1136C=
NM_000022.2:c.594C= , LRG_16t1:c.594C= (ADA)	NP_000013.2:p.Val198=
XM_005260236.2:c.594C= (ADA)	XP_005260293.1:p.Val198=
XM_011528478.1:c.189C= (ADA)	XP_011526780.1:p.Val63=
XM_011528479.1:c.189C= (ADA)	XP_011526781.1:p.Val63=
XR_244129.1:n.648C= (ADA)
NM_000022.3:c.594C= (ADA)	NP_000013.2:p.Val198=
NM_001322050.1:c.189C= (ADA)	NP_001308979.1:p.Val63=
NM_001322051.1:c.594C= (ADA)	NP_001308980.1:p.Val198=
NR_136160.1:n.745C= (ADA)
NM_000022.4:c.594C= (ADA) MANE Select	NP_000013.2:p.Val198=
NM_001322050.2:c.189C= (ADA)	NP_001308979.1:p.Val63=
NM_001322051.2:c.594C= (ADA)	NP_001308980.1:p.Val198=
NR_136160.2:n.686C= (ADA)