Canonical Allele Identifier: CA409118307

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43248945G>C (hg19) ; chr20:g.44620304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620304G>C , CM000682.2:g.44620304G>C	GRCh38
NC_000020.10:g.43248945G>C , CM000682.1:g.43248945G>C	GRCh37
NC_000020.9:g.42682359G>C	NCBI36
NG_007385.1:g.36432C>G , LRG_16:g.36432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1240C>G (ADA)
ENST00000536076.2:c.920C>G (ADA)	ENSP00000512234.1:p.Ser307Cys
ENST00000536532.6:c.*216C>G (ADA)	ENSP00000440946.1:n.*216C>G
ENST00000537820.2:c.1001C>G (ADA)	ENSP00000441818.1:p.Ser334Cys
ENST00000539235.6:c.*457C>G (ADA)	ENSP00000446464.1:n.*457C>G
ENST00000695889.1:c.548C>G (ADA)	ENSP00000512240.1:p.Ser183Cys
ENST00000695890.1:n.5184C>G (ADA)
ENST00000695891.1:c.613C>G (ADA)	ENSP00000512241.1:n.613C>G
ENST00000695927.1:c.1151C>G (ADA)	ENSP00000512270.1:p.Ser384Cys
ENST00000695949.1:c.998C>G (ADA)	ENSP00000512281.1:p.Ser333Cys
ENST00000695956.1:c.228C>G (ADA)
ENST00000695957.1:c.*564C>G (ADA)	ENSP00000512286.1:n.*564C>G
ENST00000695991.1:c.611C>G (ADA)	ENSP00000512314.1:p.Ser204Cys
ENST00000695992.1:c.*216C>G (ADA)	ENSP00000512315.1:n.*216C>G
ENST00000695993.1:c.1073C>G (ADA)	ENSP00000512316.1:p.Ser358Cys
ENST00000695994.1:c.*216C>G (ADA)	ENSP00000512317.1:n.*216C>G
ENST00000695995.1:c.683C>G (ADA)	ENSP00000512318.1:p.Ser228Cys
ENST00000695996.1:n.1155C>G (ADA)
ENST00000696003.1:n.2857C>G (ADA)
ENST00000696004.1:n.1857C>G (ADA)
ENST00000696005.1:c.523C>G (ADA)
ENST00000696006.1:c.*216C>G (ADA)	ENSP00000512325.1:n.*216C>G
ENST00000696007.1:c.1000C>G (ADA)	ENSP00000512326.1:n.1000C>G
ENST00000696008.1:n.3427C>G (ADA)
ENST00000696017.1:c.1070C>G (ADA)	ENSP00000512333.1:p.Ser357Cys
ENST00000696034.1:c.*216C>G (ADA)	ENSP00000512343.1:n.*216C>G
ENST00000696035.1:n.1259C>G (ADA)
ENST00000696036.1:n.1774C>G (ADA)
ENST00000696037.1:n.2750C>G (ADA)
ENST00000696038.1:c.*830C>G (ADA)	ENSP00000512344.1:n.*830C>G
ENST00000696039.1:n.1437C>G (ADA)
ENST00000696058.1:c.1070C>G (ADA)	ENSP00000512361.1:p.Ser357Cys
ENST00000696059.1:c.*1018C>G (ADA)	ENSP00000512362.1:n.*1018C>G
ENST00000696060.1:c.1142C>G (ADA)	ENSP00000512363.1:p.Ser381Cys
ENST00000696061.1:c.1070C>G (ADA)	ENSP00000512364.1:p.Ser357Cys
ENST00000696062.1:c.1136C>G (ADA)	ENSP00000512365.1:p.Ser379Cys
ENST00000696063.1:c.1148C>G (ADA)	ENSP00000512366.1:p.Ser383Cys
ENST00000696064.1:c.920C>G (ADA)	ENSP00000512367.1:p.Ser307Cys
ENST00000696065.1:c.395C>G (ADA)	ENSP00000512368.1:p.Ser132Cys
ENST00000696072.1:n.428C>G (ADA)
ENST00000696073.1:n.1384C>G (ADA)
ENST00000696074.1:n.624C>G (ADA)
ENST00000696075.1:c.*1043C>G (ADA)	ENSP00000512374.1:n.*1043C>G
ENST00000696076.1:c.1142C>G (ADA)	ENSP00000512375.1:p.Ser381Cys
ENST00000696077.1:c.1067C>G (ADA)	ENSP00000512376.1:p.Ser356Cys
ENST00000696078.1:c.1070C>G (ADA)	ENSP00000512377.1:p.Ser357Cys
ENST00000696079.1:c.1070C>G (ADA)	ENSP00000512378.1:p.Ser357Cys
ENST00000696080.1:c.1073C>G (ADA)	ENSP00000512379.1:p.Ser358Cys
ENST00000696081.1:n.1192C>G (ADA)
ENST00000696082.1:c.1148C>G (ADA)	ENSP00000512380.1:p.Ser383Cys
ENST00000696083.1:n.2030C>G (ADA)
ENST00000696084.1:n.1250C>G (ADA)
ENST00000696104.1:c.*142C>G (ADA)	ENSP00000512399.1:n.*142C>G
ENST00000372874.9:c.1073C>G (ADA) MANE Select	ENSP00000361965.4:p.Ser358Cys
ENST00000372874.8:c.1073C>G (ADA)	ENSP00000361965.4:p.Ser358Cys
ENST00000372887.5:c.152-3629G>C (PKIG)	ENSP00000361978.1:n.152-3629G>C
ENST00000464097.5:n.1439C>G (ADA)
ENST00000492931.5:n.1233C>G (ADA)
ENST00000536532.5:c.*216C>G (ADA)	ENSP00000440946.1:n.*216C>G
ENST00000537820.1:c.1001C>G (ADA)	ENSP00000441818.1:p.Ser334Cys
ENST00000539235.5:c.*457C>G (ADA)	ENSP00000446464.1:n.*457C>G
NM_000022.2:c.1073C>G , LRG_16t1:c.1073C>G (ADA)	NP_000013.2:p.Ser358Cys
XM_005260236.2:c.1001C>G (ADA)	XP_005260293.1:p.Ser334Cys
XM_011528478.1:c.668C>G (ADA)	XP_011526780.1:p.Ser223Cys
XM_011528479.1:c.668C>G (ADA)	XP_011526781.1:p.Ser223Cys
XR_244129.1:n.1062C>G (ADA)
NM_000022.3:c.1073C>G (ADA)	NP_000013.2:p.Ser358Cys
NM_001322050.1:c.668C>G (ADA)	NP_001308979.1:p.Ser223Cys
NM_001322051.1:c.1001C>G (ADA)	NP_001308980.1:p.Ser334Cys
NR_136160.1:n.1159C>G (ADA)
NM_000022.4:c.1073C>G (ADA) MANE Select	NP_000013.2:p.Ser358Cys
NM_001322050.2:c.668C>G (ADA)	NP_001308979.1:p.Ser223Cys
NM_001322051.2:c.1001C>G (ADA)	NP_001308980.1:p.Ser334Cys
NR_136160.2:n.1100C>G (ADA)