Canonical Allele Identifier: CA409118433

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43248967A>C (hg19) ; chr20:g.44620326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620326A>C , CM000682.2:g.44620326A>C	GRCh38
NC_000020.10:g.43248967A>C , CM000682.1:g.43248967A>C	GRCh37
NC_000020.9:g.42682381A>C	NCBI36
NG_007385.1:g.36410T>G , LRG_16:g.36410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1218T>G (ADA)
ENST00000536076.2:c.898T>G (ADA)	ENSP00000512234.1:p.Tyr300Asp
ENST00000536532.6:c.*194T>G (ADA)	ENSP00000440946.1:n.*194T>G
ENST00000537820.2:c.979T>G (ADA)	ENSP00000441818.1:p.Tyr327Asp
ENST00000539235.6:c.*435T>G (ADA)	ENSP00000446464.1:n.*435T>G
ENST00000695889.1:c.526T>G (ADA)	ENSP00000512240.1:p.Tyr176Asp
ENST00000695890.1:n.5162T>G (ADA)
ENST00000695891.1:c.591T>G (ADA)	ENSP00000512241.1:n.591T>G
ENST00000695927.1:c.1129T>G (ADA)	ENSP00000512270.1:p.Tyr377Asp
ENST00000695949.1:c.976T>G (ADA)	ENSP00000512281.1:p.Tyr326Asp
ENST00000695956.1:c.206T>G (ADA)
ENST00000695957.1:c.*542T>G (ADA)	ENSP00000512286.1:n.*542T>G
ENST00000695991.1:c.589T>G (ADA)	ENSP00000512314.1:p.Tyr197Asp
ENST00000695992.1:c.*194T>G (ADA)	ENSP00000512315.1:n.*194T>G
ENST00000695993.1:c.1051T>G (ADA)	ENSP00000512316.1:p.Tyr351Asp
ENST00000695994.1:c.*194T>G (ADA)	ENSP00000512317.1:n.*194T>G
ENST00000695995.1:c.661T>G (ADA)	ENSP00000512318.1:p.Tyr221Asp
ENST00000695996.1:n.1133T>G (ADA)
ENST00000696003.1:n.2835T>G (ADA)
ENST00000696004.1:n.1835T>G (ADA)
ENST00000696005.1:c.501T>G (ADA)
ENST00000696006.1:c.*194T>G (ADA)	ENSP00000512325.1:n.*194T>G
ENST00000696007.1:c.978T>G (ADA)	ENSP00000512326.1:n.978T>G
ENST00000696008.1:n.3405T>G (ADA)
ENST00000696017.1:c.1048T>G (ADA)	ENSP00000512333.1:p.Tyr350Asp
ENST00000696034.1:c.*194T>G (ADA)	ENSP00000512343.1:n.*194T>G
ENST00000696035.1:n.1237T>G (ADA)
ENST00000696036.1:n.1752T>G (ADA)
ENST00000696037.1:n.2728T>G (ADA)
ENST00000696038.1:c.*808T>G (ADA)	ENSP00000512344.1:n.*808T>G
ENST00000696039.1:n.1415T>G (ADA)
ENST00000696058.1:c.1048T>G (ADA)	ENSP00000512361.1:p.Tyr350Asp
ENST00000696059.1:c.*996T>G (ADA)	ENSP00000512362.1:n.*996T>G
ENST00000696060.1:c.1120T>G (ADA)	ENSP00000512363.1:p.Tyr374Asp
ENST00000696061.1:c.1048T>G (ADA)	ENSP00000512364.1:p.Tyr350Asp
ENST00000696062.1:c.1114T>G (ADA)	ENSP00000512365.1:p.Tyr372Asp
ENST00000696063.1:c.1126T>G (ADA)	ENSP00000512366.1:p.Tyr376Asp
ENST00000696064.1:c.898T>G (ADA)	ENSP00000512367.1:p.Tyr300Asp
ENST00000696065.1:c.373T>G (ADA)	ENSP00000512368.1:p.Tyr125Asp
ENST00000696072.1:n.406T>G (ADA)
ENST00000696073.1:n.1362T>G (ADA)
ENST00000696074.1:n.602T>G (ADA)
ENST00000696075.1:c.*1021T>G (ADA)	ENSP00000512374.1:n.*1021T>G
ENST00000696076.1:c.1120T>G (ADA)	ENSP00000512375.1:p.Tyr374Asp
ENST00000696077.1:c.1045T>G (ADA)	ENSP00000512376.1:p.Tyr349Asp
ENST00000696078.1:c.1048T>G (ADA)	ENSP00000512377.1:p.Tyr350Asp
ENST00000696079.1:c.1048T>G (ADA)	ENSP00000512378.1:p.Tyr350Asp
ENST00000696080.1:c.1051T>G (ADA)	ENSP00000512379.1:p.Tyr351Asp
ENST00000696081.1:n.1170T>G (ADA)
ENST00000696082.1:c.1126T>G (ADA)	ENSP00000512380.1:p.Tyr376Asp
ENST00000696083.1:n.2008T>G (ADA)
ENST00000696084.1:n.1228T>G (ADA)
ENST00000696104.1:c.*120T>G (ADA)	ENSP00000512399.1:n.*120T>G
ENST00000372874.9:c.1051T>G (ADA) MANE Select	ENSP00000361965.4:p.Tyr351Asp
ENST00000372874.8:c.1051T>G (ADA)	ENSP00000361965.4:p.Tyr351Asp
ENST00000372887.5:c.152-3607A>C (PKIG)	ENSP00000361978.1:n.152-3607A>C
ENST00000464097.5:n.1417T>G (ADA)
ENST00000492931.5:n.1211T>G (ADA)
ENST00000536532.5:c.*194T>G (ADA)	ENSP00000440946.1:n.*194T>G
ENST00000537820.1:c.979T>G (ADA)	ENSP00000441818.1:p.Tyr327Asp
ENST00000539235.5:c.*435T>G (ADA)	ENSP00000446464.1:n.*435T>G
NM_000022.2:c.1051T>G , LRG_16t1:c.1051T>G (ADA)	NP_000013.2:p.Tyr351Asp
XM_005260236.2:c.979T>G (ADA)	XP_005260293.1:p.Tyr327Asp
XM_011528478.1:c.646T>G (ADA)	XP_011526780.1:p.Tyr216Asp
XM_011528479.1:c.646T>G (ADA)	XP_011526781.1:p.Tyr216Asp
XR_244129.1:n.1040T>G (ADA)
NM_000022.3:c.1051T>G (ADA)	NP_000013.2:p.Tyr351Asp
NM_001322050.1:c.646T>G (ADA)	NP_001308979.1:p.Tyr216Asp
NM_001322051.1:c.979T>G (ADA)	NP_001308980.1:p.Tyr327Asp
NR_136160.1:n.1137T>G (ADA)
NM_000022.4:c.1051T>G (ADA) MANE Select	NP_000013.2:p.Tyr351Asp
NM_001322050.2:c.646T>G (ADA)	NP_001308979.1:p.Tyr216Asp
NM_001322051.2:c.979T>G (ADA)	NP_001308980.1:p.Tyr327Asp
NR_136160.2:n.1078T>G (ADA)