Canonical Allele Identifier: CA409118513

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43248981A>C (hg19) ; chr20:g.44620340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620340A>C , CM000682.2:g.44620340A>C	GRCh38
NC_000020.10:g.43248981A>C , CM000682.1:g.43248981A>C	GRCh37
NC_000020.9:g.42682395A>C	NCBI36
NG_007385.1:g.36396T>G , LRG_16:g.36396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1204T>G (ADA)
ENST00000536076.2:c.884T>G (ADA)	ENSP00000512234.1:p.Leu295Arg
ENST00000536532.6:c.*180T>G (ADA)	ENSP00000440946.1:n.*180T>G
ENST00000537820.2:c.965T>G (ADA)	ENSP00000441818.1:p.Leu322Arg
ENST00000539235.6:c.*421T>G (ADA)	ENSP00000446464.1:n.*421T>G
ENST00000695889.1:c.512T>G (ADA)	ENSP00000512240.1:p.Leu171Arg
ENST00000695890.1:n.5148T>G (ADA)
ENST00000695891.1:c.577T>G (ADA)	ENSP00000512241.1:n.577T>G
ENST00000695927.1:c.1115T>G (ADA)	ENSP00000512270.1:p.Leu372Arg
ENST00000695949.1:c.962T>G (ADA)	ENSP00000512281.1:p.Leu321Arg
ENST00000695956.1:c.192T>G (ADA)
ENST00000695957.1:c.*528T>G (ADA)	ENSP00000512286.1:n.*528T>G
ENST00000695991.1:c.575T>G (ADA)	ENSP00000512314.1:p.Leu192Arg
ENST00000695992.1:c.*180T>G (ADA)	ENSP00000512315.1:n.*180T>G
ENST00000695993.1:c.1037T>G (ADA)	ENSP00000512316.1:p.Leu346Arg
ENST00000695994.1:c.*180T>G (ADA)	ENSP00000512317.1:n.*180T>G
ENST00000695995.1:c.647T>G (ADA)	ENSP00000512318.1:p.Leu216Arg
ENST00000695996.1:n.1119T>G (ADA)
ENST00000696003.1:n.2821T>G (ADA)
ENST00000696004.1:n.1821T>G (ADA)
ENST00000696005.1:c.487T>G (ADA)
ENST00000696006.1:c.*180T>G (ADA)	ENSP00000512325.1:n.*180T>G
ENST00000696007.1:c.964T>G (ADA)	ENSP00000512326.1:n.964T>G
ENST00000696008.1:n.3391T>G (ADA)
ENST00000696017.1:c.1034T>G (ADA)	ENSP00000512333.1:p.Leu345Arg
ENST00000696034.1:c.*180T>G (ADA)	ENSP00000512343.1:n.*180T>G
ENST00000696035.1:n.1223T>G (ADA)
ENST00000696036.1:n.1738T>G (ADA)
ENST00000696037.1:n.2714T>G (ADA)
ENST00000696038.1:c.*794T>G (ADA)	ENSP00000512344.1:n.*794T>G
ENST00000696039.1:n.1401T>G (ADA)
ENST00000696058.1:c.1034T>G (ADA)	ENSP00000512361.1:p.Leu345Arg
ENST00000696059.1:c.*982T>G (ADA)	ENSP00000512362.1:n.*982T>G
ENST00000696060.1:c.1106T>G (ADA)	ENSP00000512363.1:p.Leu369Arg
ENST00000696061.1:c.1034T>G (ADA)	ENSP00000512364.1:p.Leu345Arg
ENST00000696062.1:c.1100T>G (ADA)	ENSP00000512365.1:p.Leu367Arg
ENST00000696063.1:c.1112T>G (ADA)	ENSP00000512366.1:p.Leu371Arg
ENST00000696064.1:c.884T>G (ADA)	ENSP00000512367.1:p.Leu295Arg
ENST00000696065.1:c.359T>G (ADA)	ENSP00000512368.1:p.Leu120Arg
ENST00000696072.1:n.392T>G (ADA)
ENST00000696073.1:n.1348T>G (ADA)
ENST00000696074.1:n.588T>G (ADA)
ENST00000696075.1:c.*1007T>G (ADA)	ENSP00000512374.1:n.*1007T>G
ENST00000696076.1:c.1106T>G (ADA)	ENSP00000512375.1:p.Leu369Arg
ENST00000696077.1:c.1031T>G (ADA)	ENSP00000512376.1:p.Leu344Arg
ENST00000696078.1:c.1034T>G (ADA)	ENSP00000512377.1:p.Leu345Arg
ENST00000696079.1:c.1034T>G (ADA)	ENSP00000512378.1:p.Leu345Arg
ENST00000696080.1:c.1037T>G (ADA)	ENSP00000512379.1:p.Leu346Arg
ENST00000696081.1:n.1156T>G (ADA)
ENST00000696082.1:c.1112T>G (ADA)	ENSP00000512380.1:p.Leu371Arg
ENST00000696083.1:n.1994T>G (ADA)
ENST00000696084.1:n.1214T>G (ADA)
ENST00000696104.1:c.*106T>G (ADA)	ENSP00000512399.1:n.*106T>G
ENST00000372874.9:c.1037T>G (ADA) MANE Select	ENSP00000361965.4:p.Leu346Arg
ENST00000372874.8:c.1037T>G (ADA)	ENSP00000361965.4:p.Leu346Arg
ENST00000372887.5:c.152-3593A>C (PKIG)	ENSP00000361978.1:n.152-3593A>C
ENST00000464097.5:n.1403T>G (ADA)
ENST00000492931.5:n.1197T>G (ADA)
ENST00000536532.5:c.*180T>G (ADA)	ENSP00000440946.1:n.*180T>G
ENST00000537820.1:c.965T>G (ADA)	ENSP00000441818.1:p.Leu322Arg
ENST00000539235.5:c.*421T>G (ADA)	ENSP00000446464.1:n.*421T>G
NM_000022.2:c.1037T>G , LRG_16t1:c.1037T>G (ADA)	NP_000013.2:p.Leu346Arg
XM_005260236.2:c.965T>G (ADA)	XP_005260293.1:p.Leu322Arg
XM_011528478.1:c.632T>G (ADA)	XP_011526780.1:p.Leu211Arg
XM_011528479.1:c.632T>G (ADA)	XP_011526781.1:p.Leu211Arg
XR_244129.1:n.1026T>G (ADA)
NM_000022.3:c.1037T>G (ADA)	NP_000013.2:p.Leu346Arg
NM_001322050.1:c.632T>G (ADA)	NP_001308979.1:p.Leu211Arg
NM_001322051.1:c.965T>G (ADA)	NP_001308980.1:p.Leu322Arg
NR_136160.1:n.1123T>G (ADA)
NM_000022.4:c.1037T>G (ADA) MANE Select	NP_000013.2:p.Leu346Arg
NM_001322050.2:c.632T>G (ADA)	NP_001308979.1:p.Leu211Arg
NM_001322051.2:c.965T>G (ADA)	NP_001308980.1:p.Leu322Arg
NR_136160.2:n.1064T>G (ADA)