Canonical Allele Identifier: CA409120742

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43252847T>C (hg19) ; chr20:g.44624206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624206T>C , CM000682.2:g.44624206T>C	GRCh38
NC_000020.10:g.43252847T>C , CM000682.1:g.43252847T>C	GRCh37
NC_000020.9:g.42686261T>C	NCBI36
NG_007385.1:g.32530A>G , LRG_16:g.32530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.693A>G (ADA)
ENST00000536076.2:c.449A>G (ADA)	ENSP00000512234.1:p.Tyr150Cys
ENST00000536532.6:c.602A>G (ADA)	ENSP00000440946.1:p.Tyr201Cys
ENST00000537820.2:c.602A>G (ADA)	ENSP00000441818.1:p.Tyr201Cys
ENST00000539235.6:c.219-1128A>G (ADA)	ENSP00000446464.1:n.219-1128A>G
ENST00000695889.1:c.219-1276A>G (ADA)	ENSP00000512240.1:n.219-1276A>G
ENST00000695890.1:n.2405A>G (ADA)
ENST00000695891.1:c.219-1276A>G (ADA)	ENSP00000512241.1:n.219-1276A>G
ENST00000695927.1:c.680A>G (ADA)	ENSP00000512270.1:p.Tyr227Cys
ENST00000695949.1:c.599A>G (ADA)	ENSP00000512281.1:p.Tyr200Cys
ENST00000695957.1:c.*93A>G (ADA)	ENSP00000512286.1:n.*93A>G
ENST00000695991.1:c.217-1276A>G (ADA)	ENSP00000512314.1:n.217-1276A>G
ENST00000695992.1:c.602A>G (ADA)	ENSP00000512315.1:p.Tyr201Cys
ENST00000695993.1:c.602A>G (ADA)	ENSP00000512316.1:p.Tyr201Cys
ENST00000695994.1:c.602A>G (ADA)	ENSP00000512317.1:p.Tyr201Cys
ENST00000695995.1:c.217-1128A>G (ADA)	ENSP00000512318.1:n.217-1128A>G
ENST00000695996.1:n.673A>G (ADA)
ENST00000695997.1:n.557A>G (ADA)
ENST00000696003.1:n.694A>G (ADA)
ENST00000696004.1:n.694A>G (ADA)
ENST00000696005.1:c.124A>G (ADA)
ENST00000696006.1:c.602A>G (ADA)	ENSP00000512325.1:p.Tyr201Cys
ENST00000696007.1:c.453A>G (ADA)	ENSP00000512326.1:n.453A>G
ENST00000696008.1:n.1757A>G (ADA)
ENST00000696009.1:n.1952A>G (ADA)
ENST00000696017.1:c.599A>G (ADA)	ENSP00000512333.1:p.Tyr200Cys
ENST00000696034.1:c.602A>G (ADA)	ENSP00000512343.1:p.Tyr201Cys
ENST00000696035.1:n.712A>G (ADA)
ENST00000696036.1:n.1292A>G (ADA)
ENST00000696037.1:n.2279A>G (ADA)
ENST00000696038.1:c.*348A>G (ADA)	ENSP00000512344.1:n.*348A>G
ENST00000696039.1:n.890A>G (ADA)
ENST00000696058.1:c.602A>G (ADA)	ENSP00000512361.1:p.Tyr201Cys
ENST00000696059.1:c.*547A>G (ADA)	ENSP00000512362.1:n.*547A>G
ENST00000696060.1:c.602A>G (ADA)	ENSP00000512363.1:p.Tyr201Cys
ENST00000696061.1:c.599A>G (ADA)	ENSP00000512364.1:p.Tyr200Cys
ENST00000696062.1:c.665A>G (ADA)	ENSP00000512365.1:p.Tyr222Cys
ENST00000696063.1:c.677A>G (ADA)	ENSP00000512366.1:p.Tyr226Cys
ENST00000696064.1:c.449A>G (ADA)	ENSP00000512367.1:p.Tyr150Cys
ENST00000696065.1:c.66-1276A>G (ADA)	ENSP00000512368.1:n.66-1276A>G
ENST00000696074.1:n.218A>G (ADA)
ENST00000696075.1:c.*572A>G (ADA)	ENSP00000512374.1:n.*572A>G
ENST00000696076.1:c.602A>G (ADA)	ENSP00000512375.1:p.Tyr201Cys
ENST00000696077.1:c.599A>G (ADA)	ENSP00000512376.1:p.Tyr200Cys
ENST00000696078.1:c.602A>G (ADA)	ENSP00000512377.1:p.Tyr201Cys
ENST00000696079.1:c.602A>G (ADA)	ENSP00000512378.1:p.Tyr201Cys
ENST00000696080.1:c.602A>G (ADA)	ENSP00000512379.1:p.Tyr201Cys
ENST00000696081.1:n.721A>G (ADA)
ENST00000696082.1:c.680A>G (ADA)	ENSP00000512380.1:p.Tyr227Cys
ENST00000696083.1:n.1483A>G (ADA)
ENST00000696084.1:n.703A>G (ADA)
ENST00000696104.1:c.363-1276A>G (ADA)	ENSP00000512399.1:n.363-1276A>G
ENST00000696105.1:c.*143A>G (ADA)	ENSP00000512400.1:n.*143A>G
ENST00000372874.9:c.602A>G (ADA) MANE Select	ENSP00000361965.4:p.Tyr201Cys
ENST00000372874.8:c.602A>G (ADA)	ENSP00000361965.4:p.Tyr201Cys
ENST00000372887.5:c.*230T>C (PKIG)	ENSP00000361978.1:n.*230T>C
ENST00000464097.5:n.276A>G (ADA)
ENST00000492931.5:n.686A>G (ADA)
ENST00000536532.5:c.602A>G (ADA)	ENSP00000440946.1:p.Tyr201Cys
ENST00000537820.1:c.602A>G (ADA)	ENSP00000441818.1:p.Tyr201Cys
ENST00000539235.5:c.219-1128A>G (ADA)	ENSP00000446464.1:n.219-1128A>G
NM_000022.2:c.602A>G , LRG_16t1:c.602A>G (ADA)	NP_000013.2:p.Tyr201Cys
XM_005260236.2:c.602A>G (ADA)	XP_005260293.1:p.Tyr201Cys
XM_011528478.1:c.197A>G (ADA)	XP_011526780.1:p.Tyr66Cys
XM_011528479.1:c.197A>G (ADA)	XP_011526781.1:p.Tyr66Cys
XR_244129.1:n.656A>G (ADA)
NM_000022.3:c.602A>G (ADA)	NP_000013.2:p.Tyr201Cys
NM_001322050.1:c.197A>G (ADA)	NP_001308979.1:p.Tyr66Cys
NM_001322051.1:c.602A>G (ADA)	NP_001308980.1:p.Tyr201Cys
NR_136160.1:n.753A>G (ADA)
NM_000022.4:c.602A>G (ADA) MANE Select	NP_000013.2:p.Tyr201Cys
NM_001322050.2:c.197A>G (ADA)	NP_001308979.1:p.Tyr66Cys
NM_001322051.2:c.602A>G (ADA)	NP_001308980.1:p.Tyr201Cys
NR_136160.2:n.694A>G (ADA)