Canonical Allele Identifier: CA2365854977

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44621082A= , CM000682.2:g.44621082A=	GRCh38
NC_000020.10:g.43249723A= , CM000682.1:g.43249723A=	GRCh37
NC_000020.9:g.42683137A=	NCBI36
NG_007385.1:g.35654T= , LRG_16:g.35654T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000022.4:c.911T= (ADA) MANE Select	NP_000013.2:p.Leu304=
ENST00000372874.9:c.911T= (ADA) MANE Select	ENSP00000361965.4:p.Leu304=
NM_000022.2:c.911T= , LRG_16t1:c.911T= (ADA)	NP_000013.2:p.Leu304=
NM_000022.3:c.911T= (ADA)	NP_000013.2:p.Leu304=
NM_001322050.1:c.506T= (ADA)	NP_001308979.1:p.Leu169=
NM_001322050.2:c.506T= (ADA)	NP_001308979.1:p.Leu169=
NM_001322051.1:c.839T= (ADA)	NP_001308980.1:p.Leu280=
NM_001322051.2:c.839T= (ADA)	NP_001308980.1:p.Leu280=
NR_136160.1:n.997T= (ADA)
NR_136160.2:n.938T= (ADA)
ENST00000372874.8:c.911T= (ADA)	ENSP00000361965.4:p.Leu304=
ENST00000372887.5:c.152-2851A= (PKIG)	ENSP00000361978.1:n.152-2851A=
ENST00000464097.5:n.661T= (ADA)
ENST00000492931.5:n.1071T= (ADA)
ENST00000492931.6:n.1078T= (ADA)
ENST00000536076.2:c.758T= (ADA)	ENSP00000512234.1:p.Leu253=
ENST00000536532.5:c.*54T= (ADA)	ENSP00000440946.1:n.*54T=
ENST00000536532.6:c.*54T= (ADA)	ENSP00000440946.1:n.*54T=
ENST00000537820.1:c.839T= (ADA)	ENSP00000441818.1:p.Leu280=
ENST00000537820.2:c.839T= (ADA)	ENSP00000441818.1:p.Leu280=
ENST00000539235.5:c.*295T= (ADA)	ENSP00000446464.1:n.*295T=
ENST00000539235.6:c.*295T= (ADA)	ENSP00000446464.1:n.*295T=
ENST00000695889.1:c.386T= (ADA)	ENSP00000512240.1:p.Leu129=
ENST00000695890.1:n.4406T= (ADA)
ENST00000695891.1:c.451T= (ADA)	ENSP00000512241.1:p.Trp151=
ENST00000695927.1:c.989T= (ADA)	ENSP00000512270.1:p.Leu330=
ENST00000695949.1:c.836T= (ADA)	ENSP00000512281.1:p.Leu279=
ENST00000695956.1:c.66T= (ADA)
ENST00000695957.1:c.*402T= (ADA)	ENSP00000512286.1:n.*402T=
ENST00000695991.1:c.449T= (ADA)	ENSP00000512314.1:p.Leu150=
ENST00000695992.1:c.*54T= (ADA)	ENSP00000512315.1:n.*54T=
ENST00000695993.1:c.911T= (ADA)	ENSP00000512316.1:p.Leu304=
ENST00000695994.1:c.*54T= (ADA)	ENSP00000512317.1:n.*54T=
ENST00000695995.1:c.521T= (ADA)	ENSP00000512318.1:p.Leu174=
ENST00000695996.1:n.993T= (ADA)
ENST00000696003.1:n.2695T= (ADA)
ENST00000696004.1:n.1079T= (ADA)
ENST00000696005.1:c.361T= (ADA)
ENST00000696006.1:c.*54T= (ADA)	ENSP00000512325.1:n.*54T=
ENST00000696007.1:c.838T= (ADA)	ENSP00000512326.1:n.838T=
ENST00000696008.1:n.3265T= (ADA)
ENST00000696017.1:c.908T= (ADA)	ENSP00000512333.1:p.Leu303=
ENST00000696034.1:c.*54T= (ADA)	ENSP00000512343.1:n.*54T=
ENST00000696035.1:n.1097T= (ADA)
ENST00000696036.1:n.1612T= (ADA)
ENST00000696037.1:n.2588T= (ADA)
ENST00000696038.1:c.*668T= (ADA)	ENSP00000512344.1:n.*668T=
ENST00000696039.1:n.1275T= (ADA)
ENST00000696058.1:c.908T= (ADA)	ENSP00000512361.1:p.Leu303=
ENST00000696059.1:c.*856T= (ADA)	ENSP00000512362.1:n.*856T=
ENST00000696060.1:c.980T= (ADA)	ENSP00000512363.1:p.Leu327=
ENST00000696061.1:c.908T= (ADA)	ENSP00000512364.1:p.Leu303=
ENST00000696062.1:c.974T= (ADA)	ENSP00000512365.1:p.Leu325=
ENST00000696063.1:c.986T= (ADA)	ENSP00000512366.1:p.Leu329=
ENST00000696064.1:c.758T= (ADA)	ENSP00000512367.1:p.Leu253=
ENST00000696065.1:c.233T= (ADA)	ENSP00000512368.1:p.Leu78=
ENST00000696072.1:n.266T= (ADA)
ENST00000696073.1:n.1222T= (ADA)
ENST00000696074.1:n.462T= (ADA)
ENST00000696075.1:c.*881T= (ADA)	ENSP00000512374.1:n.*881T=
ENST00000696076.1:c.980T= (ADA)	ENSP00000512375.1:p.Leu327=
ENST00000696077.1:c.905T= (ADA)	ENSP00000512376.1:p.Leu302=
ENST00000696078.1:c.908T= (ADA)	ENSP00000512377.1:p.Leu303=
ENST00000696079.1:c.908T= (ADA)	ENSP00000512378.1:p.Leu303=
ENST00000696080.1:c.911T= (ADA)	ENSP00000512379.1:p.Leu304=
ENST00000696081.1:n.1030T= (ADA)
ENST00000696082.1:c.986T= (ADA)	ENSP00000512380.1:p.Leu329=
ENST00000696083.1:n.1868T= (ADA)
ENST00000696084.1:n.1088T= (ADA)
ENST00000696104.1:c.595T= (ADA)	ENSP00000512399.1:p.Trp199=
XM_005260236.2:c.839T= (ADA)	XP_005260293.1:p.Leu280=
XM_011528478.1:c.506T= (ADA)	XP_011526780.1:p.Leu169=
XM_011528479.1:c.506T= (ADA)	XP_011526781.1:p.Leu169=
XR_244129.1:n.900T= (ADA)