Canonical Allele Identifier: CA409118292

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43248942G>C (hg19) ; chr20:g.44620301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620301G>C , CM000682.2:g.44620301G>C	GRCh38
NC_000020.10:g.43248942G>C , CM000682.1:g.43248942G>C	GRCh37
NC_000020.9:g.42682356G>C	NCBI36
NG_007385.1:g.36435C>G , LRG_16:g.36435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1243C>G (ADA)
ENST00000536076.2:c.923C>G (ADA)	ENSP00000512234.1:p.Ala308Gly
ENST00000536532.6:c.*219C>G (ADA)	ENSP00000440946.1:n.*219C>G
ENST00000537820.2:c.1004C>G (ADA)	ENSP00000441818.1:p.Ala335Gly
ENST00000539235.6:c.*460C>G (ADA)	ENSP00000446464.1:n.*460C>G
ENST00000695889.1:c.551C>G (ADA)	ENSP00000512240.1:p.Ala184Gly
ENST00000695890.1:n.5187C>G (ADA)
ENST00000695891.1:c.616C>G (ADA)	ENSP00000512241.1:n.616C>G
ENST00000695927.1:c.1154C>G (ADA)	ENSP00000512270.1:p.Ala385Gly
ENST00000695949.1:c.1001C>G (ADA)	ENSP00000512281.1:p.Ala334Gly
ENST00000695956.1:c.231C>G (ADA)
ENST00000695957.1:c.*567C>G (ADA)	ENSP00000512286.1:n.*567C>G
ENST00000695991.1:c.614C>G (ADA)	ENSP00000512314.1:p.Ala205Gly
ENST00000695992.1:c.*219C>G (ADA)	ENSP00000512315.1:n.*219C>G
ENST00000695993.1:c.1076C>G (ADA)	ENSP00000512316.1:p.Ala359Gly
ENST00000695994.1:c.*219C>G (ADA)	ENSP00000512317.1:n.*219C>G
ENST00000695995.1:c.686C>G (ADA)	ENSP00000512318.1:p.Ala229Gly
ENST00000695996.1:n.1158C>G (ADA)
ENST00000696003.1:n.2860C>G (ADA)
ENST00000696004.1:n.1860C>G (ADA)
ENST00000696005.1:c.526C>G (ADA)
ENST00000696006.1:c.*219C>G (ADA)	ENSP00000512325.1:n.*219C>G
ENST00000696007.1:c.1003C>G (ADA)	ENSP00000512326.1:n.1003C>G
ENST00000696008.1:n.3430C>G (ADA)
ENST00000696017.1:c.1073C>G (ADA)	ENSP00000512333.1:p.Ala358Gly
ENST00000696034.1:c.*219C>G (ADA)	ENSP00000512343.1:n.*219C>G
ENST00000696035.1:n.1262C>G (ADA)
ENST00000696036.1:n.1777C>G (ADA)
ENST00000696037.1:n.2753C>G (ADA)
ENST00000696038.1:c.*833C>G (ADA)	ENSP00000512344.1:n.*833C>G
ENST00000696039.1:n.1440C>G (ADA)
ENST00000696058.1:c.1073C>G (ADA)	ENSP00000512361.1:p.Ala358Gly
ENST00000696059.1:c.*1021C>G (ADA)	ENSP00000512362.1:n.*1021C>G
ENST00000696060.1:c.1145C>G (ADA)	ENSP00000512363.1:p.Ala382Gly
ENST00000696061.1:c.1073C>G (ADA)	ENSP00000512364.1:p.Ala358Gly
ENST00000696062.1:c.1139C>G (ADA)	ENSP00000512365.1:p.Ala380Gly
ENST00000696063.1:c.1151C>G (ADA)	ENSP00000512366.1:p.Ala384Gly
ENST00000696064.1:c.923C>G (ADA)	ENSP00000512367.1:p.Ala308Gly
ENST00000696065.1:c.398C>G (ADA)	ENSP00000512368.1:p.Ala133Gly
ENST00000696072.1:n.431C>G (ADA)
ENST00000696073.1:n.1387C>G (ADA)
ENST00000696074.1:n.627C>G (ADA)
ENST00000696075.1:c.*1046C>G (ADA)	ENSP00000512374.1:n.*1046C>G
ENST00000696076.1:c.1145C>G (ADA)	ENSP00000512375.1:p.Ala382Gly
ENST00000696077.1:c.1070C>G (ADA)	ENSP00000512376.1:p.Ala357Gly
ENST00000696078.1:c.1073C>G (ADA)	ENSP00000512377.1:p.Ala358Gly
ENST00000696079.1:c.1073C>G (ADA)	ENSP00000512378.1:p.Ala358Gly
ENST00000696080.1:c.1076C>G (ADA)	ENSP00000512379.1:p.Ala359Gly
ENST00000696081.1:n.1195C>G (ADA)
ENST00000696082.1:c.1151C>G (ADA)	ENSP00000512380.1:p.Ala384Gly
ENST00000696083.1:n.2033C>G (ADA)
ENST00000696084.1:n.1253C>G (ADA)
ENST00000696104.1:c.*145C>G (ADA)	ENSP00000512399.1:n.*145C>G
ENST00000372874.9:c.1076C>G (ADA) MANE Select	ENSP00000361965.4:p.Ala359Gly
ENST00000372874.8:c.1076C>G (ADA)	ENSP00000361965.4:p.Ala359Gly
ENST00000372887.5:c.152-3632G>C (PKIG)	ENSP00000361978.1:n.152-3632G>C
ENST00000464097.5:n.1442C>G (ADA)
ENST00000492931.5:n.1236C>G (ADA)
ENST00000536532.5:c.*219C>G (ADA)	ENSP00000440946.1:n.*219C>G
ENST00000537820.1:c.1004C>G (ADA)	ENSP00000441818.1:p.Ala335Gly
ENST00000539235.5:c.*460C>G (ADA)	ENSP00000446464.1:n.*460C>G
NM_000022.2:c.1076C>G , LRG_16t1:c.1076C>G (ADA)	NP_000013.2:p.Ala359Gly
XM_005260236.2:c.1004C>G (ADA)	XP_005260293.1:p.Ala335Gly
XM_011528478.1:c.671C>G (ADA)	XP_011526780.1:p.Ala224Gly
XM_011528479.1:c.671C>G (ADA)	XP_011526781.1:p.Ala224Gly
XR_244129.1:n.1065C>G (ADA)
NM_000022.3:c.1076C>G (ADA)	NP_000013.2:p.Ala359Gly
NM_001322050.1:c.671C>G (ADA)	NP_001308979.1:p.Ala224Gly
NM_001322051.1:c.1004C>G (ADA)	NP_001308980.1:p.Ala335Gly
NR_136160.1:n.1162C>G (ADA)
NM_000022.4:c.1076C>G (ADA) MANE Select	NP_000013.2:p.Ala359Gly
NM_001322050.2:c.671C>G (ADA)	NP_001308979.1:p.Ala224Gly
NM_001322051.2:c.1004C>G (ADA)	NP_001308980.1:p.Ala335Gly
NR_136160.2:n.1103C>G (ADA)