Canonical Allele Identifier: CA409119048

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44621103G>C , CM000682.2:g.44621103G>C	GRCh38
NC_000020.10:g.43249744G>C , CM000682.1:g.43249744G>C	GRCh37
NC_000020.9:g.42683158G>C	NCBI36
NG_007385.1:g.35633C>G , LRG_16:g.35633C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000022.4:c.890C>G (ADA) MANE Select	NP_000013.2:p.Pro297Arg
ENST00000372874.9:c.890C>G (ADA) MANE Select	ENSP00000361965.4:p.Pro297Arg
NM_000022.2:c.890C>G , LRG_16t1:c.890C>G (ADA)	NP_000013.2:p.Pro297Arg
NM_000022.3:c.890C>G (ADA)	NP_000013.2:p.Pro297Arg
NM_001322050.1:c.485C>G (ADA)	NP_001308979.1:p.Pro162Arg
NM_001322050.2:c.485C>G (ADA)	NP_001308979.1:p.Pro162Arg
NM_001322051.1:c.818C>G (ADA)	NP_001308980.1:p.Pro273Arg
NM_001322051.2:c.818C>G (ADA)	NP_001308980.1:p.Pro273Arg
NR_136160.1:n.976C>G (ADA)
NR_136160.2:n.917C>G (ADA)
ENST00000372874.8:c.890C>G (ADA)	ENSP00000361965.4:p.Pro297Arg
ENST00000372887.5:c.152-2830G>C (PKIG)	ENSP00000361978.1:n.152-2830G>C
ENST00000464097.5:n.640C>G (ADA)
ENST00000492931.5:n.1050C>G (ADA)
ENST00000492931.6:n.1057C>G (ADA)
ENST00000536076.2:c.737C>G (ADA)	ENSP00000512234.1:p.Pro246Arg
ENST00000536532.5:c.*33C>G (ADA)	ENSP00000440946.1:n.*33C>G
ENST00000536532.6:c.*33C>G (ADA)	ENSP00000440946.1:n.*33C>G
ENST00000537820.1:c.818C>G (ADA)	ENSP00000441818.1:p.Pro273Arg
ENST00000537820.2:c.818C>G (ADA)	ENSP00000441818.1:p.Pro273Arg
ENST00000539235.5:c.*274C>G (ADA)	ENSP00000446464.1:n.*274C>G
ENST00000539235.6:c.*274C>G (ADA)	ENSP00000446464.1:n.*274C>G
ENST00000695889.1:c.365C>G (ADA)	ENSP00000512240.1:p.Pro122Arg
ENST00000695890.1:n.4385C>G (ADA)
ENST00000695891.1:c.430C>G (ADA)	ENSP00000512241.1:p.Arg144Gly
ENST00000695927.1:c.968C>G (ADA)	ENSP00000512270.1:p.Pro323Arg
ENST00000695949.1:c.815C>G (ADA)	ENSP00000512281.1:p.Pro272Arg
ENST00000695956.1:c.45C>G (ADA)
ENST00000695957.1:c.*381C>G (ADA)	ENSP00000512286.1:n.*381C>G
ENST00000695991.1:c.428C>G (ADA)	ENSP00000512314.1:p.Pro143Arg
ENST00000695992.1:c.*33C>G (ADA)	ENSP00000512315.1:n.*33C>G
ENST00000695993.1:c.890C>G (ADA)	ENSP00000512316.1:p.Pro297Arg
ENST00000695994.1:c.*33C>G (ADA)	ENSP00000512317.1:n.*33C>G
ENST00000695995.1:c.500C>G (ADA)	ENSP00000512318.1:p.Pro167Arg
ENST00000695996.1:n.972C>G (ADA)
ENST00000696003.1:n.2674C>G (ADA)
ENST00000696004.1:n.1058C>G (ADA)
ENST00000696005.1:c.340C>G (ADA)
ENST00000696006.1:c.*33C>G (ADA)	ENSP00000512325.1:n.*33C>G
ENST00000696007.1:c.817C>G (ADA)	ENSP00000512326.1:n.817C>G
ENST00000696008.1:n.3244C>G (ADA)
ENST00000696017.1:c.887C>G (ADA)	ENSP00000512333.1:p.Pro296Arg
ENST00000696034.1:c.*33C>G (ADA)	ENSP00000512343.1:n.*33C>G
ENST00000696035.1:n.1076C>G (ADA)
ENST00000696036.1:n.1591C>G (ADA)
ENST00000696037.1:n.2567C>G (ADA)
ENST00000696038.1:c.*647C>G (ADA)	ENSP00000512344.1:n.*647C>G
ENST00000696039.1:n.1254C>G (ADA)
ENST00000696058.1:c.887C>G (ADA)	ENSP00000512361.1:p.Pro296Arg
ENST00000696059.1:c.*835C>G (ADA)	ENSP00000512362.1:n.*835C>G
ENST00000696060.1:c.959C>G (ADA)	ENSP00000512363.1:p.Pro320Arg
ENST00000696061.1:c.887C>G (ADA)	ENSP00000512364.1:p.Pro296Arg
ENST00000696062.1:c.953C>G (ADA)	ENSP00000512365.1:p.Pro318Arg
ENST00000696063.1:c.965C>G (ADA)	ENSP00000512366.1:p.Pro322Arg
ENST00000696064.1:c.737C>G (ADA)	ENSP00000512367.1:p.Pro246Arg
ENST00000696065.1:c.212C>G (ADA)	ENSP00000512368.1:p.Pro71Arg
ENST00000696072.1:n.245C>G (ADA)
ENST00000696073.1:n.1201C>G (ADA)
ENST00000696074.1:n.441C>G (ADA)
ENST00000696075.1:c.*860C>G (ADA)	ENSP00000512374.1:n.*860C>G
ENST00000696076.1:c.959C>G (ADA)	ENSP00000512375.1:p.Pro320Arg
ENST00000696077.1:c.884C>G (ADA)	ENSP00000512376.1:p.Pro295Arg
ENST00000696078.1:c.887C>G (ADA)	ENSP00000512377.1:p.Pro296Arg
ENST00000696079.1:c.887C>G (ADA)	ENSP00000512378.1:p.Pro296Arg
ENST00000696080.1:c.890C>G (ADA)	ENSP00000512379.1:p.Pro297Arg
ENST00000696081.1:n.1009C>G (ADA)
ENST00000696082.1:c.965C>G (ADA)	ENSP00000512380.1:p.Pro322Arg
ENST00000696083.1:n.1847C>G (ADA)
ENST00000696084.1:n.1067C>G (ADA)
ENST00000696104.1:c.574C>G (ADA)	ENSP00000512399.1:p.Arg192Gly
XM_005260236.2:c.818C>G (ADA)	XP_005260293.1:p.Pro273Arg
XM_011528478.1:c.485C>G (ADA)	XP_011526780.1:p.Pro162Arg
XM_011528479.1:c.485C>G (ADA)	XP_011526781.1:p.Pro162Arg
XR_244129.1:n.879C>G (ADA)