Canonical Allele Identifier: CA409118430

Gene: ADA PKIG

Linked Data

• COSMIC: COSM4098718
• MyVariant Identifiers: chr20:g.43248966T>C (hg19) ; chr20:g.44620325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620325T>C , CM000682.2:g.44620325T>C	GRCh38
NC_000020.10:g.43248966T>C , CM000682.1:g.43248966T>C	GRCh37
NC_000020.9:g.42682380T>C	NCBI36
NG_007385.1:g.36411A>G , LRG_16:g.36411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1219A>G (ADA)
ENST00000536076.2:c.899A>G (ADA)	ENSP00000512234.1:p.Tyr300Cys
ENST00000536532.6:c.*195A>G (ADA)	ENSP00000440946.1:n.*195A>G
ENST00000537820.2:c.980A>G (ADA)	ENSP00000441818.1:p.Tyr327Cys
ENST00000539235.6:c.*436A>G (ADA)	ENSP00000446464.1:n.*436A>G
ENST00000695889.1:c.527A>G (ADA)	ENSP00000512240.1:p.Tyr176Cys
ENST00000695890.1:n.5163A>G (ADA)
ENST00000695891.1:c.592A>G (ADA)	ENSP00000512241.1:n.592A>G
ENST00000695927.1:c.1130A>G (ADA)	ENSP00000512270.1:p.Tyr377Cys
ENST00000695949.1:c.977A>G (ADA)	ENSP00000512281.1:p.Tyr326Cys
ENST00000695956.1:c.207A>G (ADA)
ENST00000695957.1:c.*543A>G (ADA)	ENSP00000512286.1:n.*543A>G
ENST00000695991.1:c.590A>G (ADA)	ENSP00000512314.1:p.Tyr197Cys
ENST00000695992.1:c.*195A>G (ADA)	ENSP00000512315.1:n.*195A>G
ENST00000695993.1:c.1052A>G (ADA)	ENSP00000512316.1:p.Tyr351Cys
ENST00000695994.1:c.*195A>G (ADA)	ENSP00000512317.1:n.*195A>G
ENST00000695995.1:c.662A>G (ADA)	ENSP00000512318.1:p.Tyr221Cys
ENST00000695996.1:n.1134A>G (ADA)
ENST00000696003.1:n.2836A>G (ADA)
ENST00000696004.1:n.1836A>G (ADA)
ENST00000696005.1:c.502A>G (ADA)
ENST00000696006.1:c.*195A>G (ADA)	ENSP00000512325.1:n.*195A>G
ENST00000696007.1:c.979A>G (ADA)	ENSP00000512326.1:n.979A>G
ENST00000696008.1:n.3406A>G (ADA)
ENST00000696017.1:c.1049A>G (ADA)	ENSP00000512333.1:p.Tyr350Cys
ENST00000696034.1:c.*195A>G (ADA)	ENSP00000512343.1:n.*195A>G
ENST00000696035.1:n.1238A>G (ADA)
ENST00000696036.1:n.1753A>G (ADA)
ENST00000696037.1:n.2729A>G (ADA)
ENST00000696038.1:c.*809A>G (ADA)	ENSP00000512344.1:n.*809A>G
ENST00000696039.1:n.1416A>G (ADA)
ENST00000696058.1:c.1049A>G (ADA)	ENSP00000512361.1:p.Tyr350Cys
ENST00000696059.1:c.*997A>G (ADA)	ENSP00000512362.1:n.*997A>G
ENST00000696060.1:c.1121A>G (ADA)	ENSP00000512363.1:p.Tyr374Cys
ENST00000696061.1:c.1049A>G (ADA)	ENSP00000512364.1:p.Tyr350Cys
ENST00000696062.1:c.1115A>G (ADA)	ENSP00000512365.1:p.Tyr372Cys
ENST00000696063.1:c.1127A>G (ADA)	ENSP00000512366.1:p.Tyr376Cys
ENST00000696064.1:c.899A>G (ADA)	ENSP00000512367.1:p.Tyr300Cys
ENST00000696065.1:c.374A>G (ADA)	ENSP00000512368.1:p.Tyr125Cys
ENST00000696072.1:n.407A>G (ADA)
ENST00000696073.1:n.1363A>G (ADA)
ENST00000696074.1:n.603A>G (ADA)
ENST00000696075.1:c.*1022A>G (ADA)	ENSP00000512374.1:n.*1022A>G
ENST00000696076.1:c.1121A>G (ADA)	ENSP00000512375.1:p.Tyr374Cys
ENST00000696077.1:c.1046A>G (ADA)	ENSP00000512376.1:p.Tyr349Cys
ENST00000696078.1:c.1049A>G (ADA)	ENSP00000512377.1:p.Tyr350Cys
ENST00000696079.1:c.1049A>G (ADA)	ENSP00000512378.1:p.Tyr350Cys
ENST00000696080.1:c.1052A>G (ADA)	ENSP00000512379.1:p.Tyr351Cys
ENST00000696081.1:n.1171A>G (ADA)
ENST00000696082.1:c.1127A>G (ADA)	ENSP00000512380.1:p.Tyr376Cys
ENST00000696083.1:n.2009A>G (ADA)
ENST00000696084.1:n.1229A>G (ADA)
ENST00000696104.1:c.*121A>G (ADA)	ENSP00000512399.1:n.*121A>G
ENST00000372874.9:c.1052A>G (ADA) MANE Select	ENSP00000361965.4:p.Tyr351Cys
ENST00000372874.8:c.1052A>G (ADA)	ENSP00000361965.4:p.Tyr351Cys
ENST00000372887.5:c.152-3608T>C (PKIG)	ENSP00000361978.1:n.152-3608T>C
ENST00000464097.5:n.1418A>G (ADA)
ENST00000492931.5:n.1212A>G (ADA)
ENST00000536532.5:c.*195A>G (ADA)	ENSP00000440946.1:n.*195A>G
ENST00000537820.1:c.980A>G (ADA)	ENSP00000441818.1:p.Tyr327Cys
ENST00000539235.5:c.*436A>G (ADA)	ENSP00000446464.1:n.*436A>G
NM_000022.2:c.1052A>G , LRG_16t1:c.1052A>G (ADA)	NP_000013.2:p.Tyr351Cys
XM_005260236.2:c.980A>G (ADA)	XP_005260293.1:p.Tyr327Cys
XM_011528478.1:c.647A>G (ADA)	XP_011526780.1:p.Tyr216Cys
XM_011528479.1:c.647A>G (ADA)	XP_011526781.1:p.Tyr216Cys
XR_244129.1:n.1041A>G (ADA)
NM_000022.3:c.1052A>G (ADA)	NP_000013.2:p.Tyr351Cys
NM_001322050.1:c.647A>G (ADA)	NP_001308979.1:p.Tyr216Cys
NM_001322051.1:c.980A>G (ADA)	NP_001308980.1:p.Tyr327Cys
NR_136160.1:n.1138A>G (ADA)
NM_000022.4:c.1052A>G (ADA) MANE Select	NP_000013.2:p.Tyr351Cys
NM_001322050.2:c.647A>G (ADA)	NP_001308979.1:p.Tyr216Cys
NM_001322051.2:c.980A>G (ADA)	NP_001308980.1:p.Tyr327Cys
NR_136160.2:n.1079A>G (ADA)