Canonical Allele Identifier: CA409118679

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43249039T>G (hg19) ; chr20:g.44620398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620398T>G , CM000682.2:g.44620398T>G	GRCh38
NC_000020.10:g.43249039T>G , CM000682.1:g.43249039T>G	GRCh37
NC_000020.9:g.42682453T>G	NCBI36
NG_007385.1:g.36338A>C , LRG_16:g.36338A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.1146A>C (ADA)
ENST00000536076.2:c.826A>C (ADA)	ENSP00000512234.1:p.Ile276Leu
ENST00000536532.6:c.*122A>C (ADA)	ENSP00000440946.1:n.*122A>C
ENST00000537820.2:c.907A>C (ADA)	ENSP00000441818.1:p.Ile303Leu
ENST00000539235.6:c.*363A>C (ADA)	ENSP00000446464.1:n.*363A>C
ENST00000695889.1:c.454A>C (ADA)	ENSP00000512240.1:p.Ile152Leu
ENST00000695890.1:n.5090A>C (ADA)
ENST00000695891.1:c.519A>C (ADA)	ENSP00000512241.1:n.519A>C
ENST00000695927.1:c.1057A>C (ADA)	ENSP00000512270.1:p.Ile353Leu
ENST00000695949.1:c.904A>C (ADA)	ENSP00000512281.1:p.Ile302Leu
ENST00000695956.1:c.134A>C (ADA)
ENST00000695957.1:c.*470A>C (ADA)	ENSP00000512286.1:n.*470A>C
ENST00000695991.1:c.517A>C (ADA)	ENSP00000512314.1:p.Ile173Leu
ENST00000695992.1:c.*122A>C (ADA)	ENSP00000512315.1:n.*122A>C
ENST00000695993.1:c.979A>C (ADA)	ENSP00000512316.1:p.Ile327Leu
ENST00000695994.1:c.*122A>C (ADA)	ENSP00000512317.1:n.*122A>C
ENST00000695995.1:c.589A>C (ADA)	ENSP00000512318.1:p.Ile197Leu
ENST00000695996.1:n.1061A>C (ADA)
ENST00000696003.1:n.2763A>C (ADA)
ENST00000696004.1:n.1763A>C (ADA)
ENST00000696005.1:c.429A>C (ADA)
ENST00000696006.1:c.*122A>C (ADA)	ENSP00000512325.1:n.*122A>C
ENST00000696007.1:c.906A>C (ADA)	ENSP00000512326.1:n.906A>C
ENST00000696008.1:n.3333A>C (ADA)
ENST00000696017.1:c.976A>C (ADA)	ENSP00000512333.1:p.Ile326Leu
ENST00000696034.1:c.*122A>C (ADA)	ENSP00000512343.1:n.*122A>C
ENST00000696035.1:n.1165A>C (ADA)
ENST00000696036.1:n.1680A>C (ADA)
ENST00000696037.1:n.2656A>C (ADA)
ENST00000696038.1:c.*736A>C (ADA)	ENSP00000512344.1:n.*736A>C
ENST00000696039.1:n.1343A>C (ADA)
ENST00000696058.1:c.976A>C (ADA)	ENSP00000512361.1:p.Ile326Leu
ENST00000696059.1:c.*924A>C (ADA)	ENSP00000512362.1:n.*924A>C
ENST00000696060.1:c.1048A>C (ADA)	ENSP00000512363.1:p.Ile350Leu
ENST00000696061.1:c.976A>C (ADA)	ENSP00000512364.1:p.Ile326Leu
ENST00000696062.1:c.1042A>C (ADA)	ENSP00000512365.1:p.Ile348Leu
ENST00000696063.1:c.1054A>C (ADA)	ENSP00000512366.1:p.Ile352Leu
ENST00000696064.1:c.826A>C (ADA)	ENSP00000512367.1:p.Ile276Leu
ENST00000696065.1:c.301A>C (ADA)	ENSP00000512368.1:p.Ile101Leu
ENST00000696072.1:n.334A>C (ADA)
ENST00000696073.1:n.1290A>C (ADA)
ENST00000696074.1:n.530A>C (ADA)
ENST00000696075.1:c.*949A>C (ADA)	ENSP00000512374.1:n.*949A>C
ENST00000696076.1:c.1048A>C (ADA)	ENSP00000512375.1:p.Ile350Leu
ENST00000696077.1:c.973A>C (ADA)	ENSP00000512376.1:p.Ile325Leu
ENST00000696078.1:c.976A>C (ADA)	ENSP00000512377.1:p.Ile326Leu
ENST00000696079.1:c.976A>C (ADA)	ENSP00000512378.1:p.Ile326Leu
ENST00000696080.1:c.979A>C (ADA)	ENSP00000512379.1:p.Ile327Leu
ENST00000696081.1:n.1098A>C (ADA)
ENST00000696082.1:c.1054A>C (ADA)	ENSP00000512380.1:p.Ile352Leu
ENST00000696083.1:n.1936A>C (ADA)
ENST00000696084.1:n.1156A>C (ADA)
ENST00000696104.1:c.*48A>C (ADA)	ENSP00000512399.1:n.*48A>C
ENST00000372874.9:c.979A>C (ADA) MANE Select	ENSP00000361965.4:p.Ile327Leu
ENST00000372874.8:c.979A>C (ADA)	ENSP00000361965.4:p.Ile327Leu
ENST00000372887.5:c.152-3535T>G (PKIG)	ENSP00000361978.1:n.152-3535T>G
ENST00000464097.5:n.1345A>C (ADA)
ENST00000492931.5:n.1139A>C (ADA)
ENST00000536532.5:c.*122A>C (ADA)	ENSP00000440946.1:n.*122A>C
ENST00000537820.1:c.907A>C (ADA)	ENSP00000441818.1:p.Ile303Leu
ENST00000539235.5:c.*363A>C (ADA)	ENSP00000446464.1:n.*363A>C
NM_000022.2:c.979A>C , LRG_16t1:c.979A>C (ADA)	NP_000013.2:p.Ile327Leu
XM_005260236.2:c.907A>C (ADA)	XP_005260293.1:p.Ile303Leu
XM_011528478.1:c.574A>C (ADA)	XP_011526780.1:p.Ile192Leu
XM_011528479.1:c.574A>C (ADA)	XP_011526781.1:p.Ile192Leu
XR_244129.1:n.968A>C (ADA)
NM_000022.3:c.979A>C (ADA)	NP_000013.2:p.Ile327Leu
NM_001322050.1:c.574A>C (ADA)	NP_001308979.1:p.Ile192Leu
NM_001322051.1:c.907A>C (ADA)	NP_001308980.1:p.Ile303Leu
NR_136160.1:n.1065A>C (ADA)
NM_000022.4:c.979A>C (ADA) MANE Select	NP_000013.2:p.Ile327Leu
NM_001322050.2:c.574A>C (ADA)	NP_001308979.1:p.Ile192Leu
NM_001322051.2:c.907A>C (ADA)	NP_001308980.1:p.Ile303Leu
NR_136160.2:n.1006A>C (ADA)