Canonical Allele Identifier: CA409118675

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43249038A>G (hg19) ; chr20:g.44620397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620397A>G , CM000682.2:g.44620397A>G	GRCh38
NC_000020.10:g.43249038A>G , CM000682.1:g.43249038A>G	GRCh37
NC_000020.9:g.42682452A>G	NCBI36
NG_007385.1:g.36339T>C , LRG_16:g.36339T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.1147T>C (ADA)
ENST00000536076.2:c.827T>C (ADA)	ENSP00000512234.1:p.Ile276Thr
ENST00000536532.6:c.*123T>C (ADA)	ENSP00000440946.1:n.*123T>C
ENST00000537820.2:c.908T>C (ADA)	ENSP00000441818.1:p.Ile303Thr
ENST00000539235.6:c.*364T>C (ADA)	ENSP00000446464.1:n.*364T>C
ENST00000695889.1:c.455T>C (ADA)	ENSP00000512240.1:p.Ile152Thr
ENST00000695890.1:n.5091T>C (ADA)
ENST00000695891.1:c.520T>C (ADA)	ENSP00000512241.1:n.520T>C
ENST00000695927.1:c.1058T>C (ADA)	ENSP00000512270.1:p.Ile353Thr
ENST00000695949.1:c.905T>C (ADA)	ENSP00000512281.1:p.Ile302Thr
ENST00000695956.1:c.135T>C (ADA)
ENST00000695957.1:c.*471T>C (ADA)	ENSP00000512286.1:n.*471T>C
ENST00000695991.1:c.518T>C (ADA)	ENSP00000512314.1:p.Ile173Thr
ENST00000695992.1:c.*123T>C (ADA)	ENSP00000512315.1:n.*123T>C
ENST00000695993.1:c.980T>C (ADA)	ENSP00000512316.1:p.Ile327Thr
ENST00000695994.1:c.*123T>C (ADA)	ENSP00000512317.1:n.*123T>C
ENST00000695995.1:c.590T>C (ADA)	ENSP00000512318.1:p.Ile197Thr
ENST00000695996.1:n.1062T>C (ADA)
ENST00000696003.1:n.2764T>C (ADA)
ENST00000696004.1:n.1764T>C (ADA)
ENST00000696005.1:c.430T>C (ADA)
ENST00000696006.1:c.*123T>C (ADA)	ENSP00000512325.1:n.*123T>C
ENST00000696007.1:c.907T>C (ADA)	ENSP00000512326.1:n.907T>C
ENST00000696008.1:n.3334T>C (ADA)
ENST00000696017.1:c.977T>C (ADA)	ENSP00000512333.1:p.Ile326Thr
ENST00000696034.1:c.*123T>C (ADA)	ENSP00000512343.1:n.*123T>C
ENST00000696035.1:n.1166T>C (ADA)
ENST00000696036.1:n.1681T>C (ADA)
ENST00000696037.1:n.2657T>C (ADA)
ENST00000696038.1:c.*737T>C (ADA)	ENSP00000512344.1:n.*737T>C
ENST00000696039.1:n.1344T>C (ADA)
ENST00000696058.1:c.977T>C (ADA)	ENSP00000512361.1:p.Ile326Thr
ENST00000696059.1:c.*925T>C (ADA)	ENSP00000512362.1:n.*925T>C
ENST00000696060.1:c.1049T>C (ADA)	ENSP00000512363.1:p.Ile350Thr
ENST00000696061.1:c.977T>C (ADA)	ENSP00000512364.1:p.Ile326Thr
ENST00000696062.1:c.1043T>C (ADA)	ENSP00000512365.1:p.Ile348Thr
ENST00000696063.1:c.1055T>C (ADA)	ENSP00000512366.1:p.Ile352Thr
ENST00000696064.1:c.827T>C (ADA)	ENSP00000512367.1:p.Ile276Thr
ENST00000696065.1:c.302T>C (ADA)	ENSP00000512368.1:p.Ile101Thr
ENST00000696072.1:n.335T>C (ADA)
ENST00000696073.1:n.1291T>C (ADA)
ENST00000696074.1:n.531T>C (ADA)
ENST00000696075.1:c.*950T>C (ADA)	ENSP00000512374.1:n.*950T>C
ENST00000696076.1:c.1049T>C (ADA)	ENSP00000512375.1:p.Ile350Thr
ENST00000696077.1:c.974T>C (ADA)	ENSP00000512376.1:p.Ile325Thr
ENST00000696078.1:c.977T>C (ADA)	ENSP00000512377.1:p.Ile326Thr
ENST00000696079.1:c.977T>C (ADA)	ENSP00000512378.1:p.Ile326Thr
ENST00000696080.1:c.980T>C (ADA)	ENSP00000512379.1:p.Ile327Thr
ENST00000696081.1:n.1099T>C (ADA)
ENST00000696082.1:c.1055T>C (ADA)	ENSP00000512380.1:p.Ile352Thr
ENST00000696083.1:n.1937T>C (ADA)
ENST00000696084.1:n.1157T>C (ADA)
ENST00000696104.1:c.*49T>C (ADA)	ENSP00000512399.1:n.*49T>C
ENST00000372874.9:c.980T>C (ADA) MANE Select	ENSP00000361965.4:p.Ile327Thr
ENST00000372874.8:c.980T>C (ADA)	ENSP00000361965.4:p.Ile327Thr
ENST00000372887.5:c.152-3536A>G (PKIG)	ENSP00000361978.1:n.152-3536A>G
ENST00000464097.5:n.1346T>C (ADA)
ENST00000492931.5:n.1140T>C (ADA)
ENST00000536532.5:c.*123T>C (ADA)	ENSP00000440946.1:n.*123T>C
ENST00000537820.1:c.908T>C (ADA)	ENSP00000441818.1:p.Ile303Thr
ENST00000539235.5:c.*364T>C (ADA)	ENSP00000446464.1:n.*364T>C
NM_000022.2:c.980T>C , LRG_16t1:c.980T>C (ADA)	NP_000013.2:p.Ile327Thr
XM_005260236.2:c.908T>C (ADA)	XP_005260293.1:p.Ile303Thr
XM_011528478.1:c.575T>C (ADA)	XP_011526780.1:p.Ile192Thr
XM_011528479.1:c.575T>C (ADA)	XP_011526781.1:p.Ile192Thr
XR_244129.1:n.969T>C (ADA)
NM_000022.3:c.980T>C (ADA)	NP_000013.2:p.Ile327Thr
NM_001322050.1:c.575T>C (ADA)	NP_001308979.1:p.Ile192Thr
NM_001322051.1:c.908T>C (ADA)	NP_001308980.1:p.Ile303Thr
NR_136160.1:n.1066T>C (ADA)
NM_000022.4:c.980T>C (ADA) MANE Select	NP_000013.2:p.Ile327Thr
NM_001322050.2:c.575T>C (ADA)	NP_001308979.1:p.Ile192Thr
NM_001322051.2:c.908T>C (ADA)	NP_001308980.1:p.Ile303Thr
NR_136160.2:n.1007T>C (ADA)