Canonical Allele Identifier: CA409120737

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs2065360188
• MyVariant Identifiers: chr20:g.43252845G>C (hg19) ; chr20:g.44624204G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624204G>C , CM000682.2:g.44624204G>C	GRCh38
NC_000020.10:g.43252845G>C , CM000682.1:g.43252845G>C	GRCh37
NC_000020.9:g.42686259G>C	NCBI36
NG_007385.1:g.32532C>G , LRG_16:g.32532C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.695C>G (ADA)
ENST00000536076.2:c.451C>G (ADA)	ENSP00000512234.1:p.Gln151Glu
ENST00000536532.6:c.604C>G (ADA)	ENSP00000440946.1:p.Gln202Glu
ENST00000537820.2:c.604C>G (ADA)	ENSP00000441818.1:p.Gln202Glu
ENST00000539235.6:c.219-1126C>G (ADA)	ENSP00000446464.1:n.219-1126C>G
ENST00000695889.1:c.219-1274C>G (ADA)	ENSP00000512240.1:n.219-1274C>G
ENST00000695890.1:n.2407C>G (ADA)
ENST00000695891.1:c.219-1274C>G (ADA)	ENSP00000512241.1:n.219-1274C>G
ENST00000695927.1:c.682C>G (ADA)	ENSP00000512270.1:p.Gln228Glu
ENST00000695949.1:c.601C>G (ADA)	ENSP00000512281.1:p.Gln201Glu
ENST00000695957.1:c.*95C>G (ADA)	ENSP00000512286.1:n.*95C>G
ENST00000695991.1:c.217-1274C>G (ADA)	ENSP00000512314.1:n.217-1274C>G
ENST00000695992.1:c.604C>G (ADA)	ENSP00000512315.1:p.Gln202Glu
ENST00000695993.1:c.604C>G (ADA)	ENSP00000512316.1:p.Gln202Glu
ENST00000695994.1:c.604C>G (ADA)	ENSP00000512317.1:p.Gln202Glu
ENST00000695995.1:c.217-1126C>G (ADA)	ENSP00000512318.1:n.217-1126C>G
ENST00000695996.1:n.675C>G (ADA)
ENST00000695997.1:n.559C>G (ADA)
ENST00000696003.1:n.696C>G (ADA)
ENST00000696004.1:n.696C>G (ADA)
ENST00000696005.1:c.126C>G (ADA)
ENST00000696006.1:c.604C>G (ADA)	ENSP00000512325.1:p.Gln202Glu
ENST00000696007.1:c.455C>G (ADA)	ENSP00000512326.1:n.455C>G
ENST00000696008.1:n.1759C>G (ADA)
ENST00000696009.1:n.1954C>G (ADA)
ENST00000696017.1:c.601C>G (ADA)	ENSP00000512333.1:p.Gln201Glu
ENST00000696034.1:c.604C>G (ADA)	ENSP00000512343.1:p.Gln202Glu
ENST00000696035.1:n.714C>G (ADA)
ENST00000696036.1:n.1294C>G (ADA)
ENST00000696037.1:n.2281C>G (ADA)
ENST00000696038.1:c.*350C>G (ADA)	ENSP00000512344.1:n.*350C>G
ENST00000696039.1:n.892C>G (ADA)
ENST00000696058.1:c.604C>G (ADA)	ENSP00000512361.1:p.Gln202Glu
ENST00000696059.1:c.*549C>G (ADA)	ENSP00000512362.1:n.*549C>G
ENST00000696060.1:c.604C>G (ADA)	ENSP00000512363.1:p.Gln202Glu
ENST00000696061.1:c.601C>G (ADA)	ENSP00000512364.1:p.Gln201Glu
ENST00000696062.1:c.667C>G (ADA)	ENSP00000512365.1:p.Gln223Glu
ENST00000696063.1:c.679C>G (ADA)	ENSP00000512366.1:p.Gln227Glu
ENST00000696064.1:c.451C>G (ADA)	ENSP00000512367.1:p.Gln151Glu
ENST00000696065.1:c.66-1274C>G (ADA)	ENSP00000512368.1:n.66-1274C>G
ENST00000696074.1:n.220C>G (ADA)
ENST00000696075.1:c.*574C>G (ADA)	ENSP00000512374.1:n.*574C>G
ENST00000696076.1:c.604C>G (ADA)	ENSP00000512375.1:p.Gln202Glu
ENST00000696077.1:c.601C>G (ADA)	ENSP00000512376.1:p.Gln201Glu
ENST00000696078.1:c.604C>G (ADA)	ENSP00000512377.1:p.Gln202Glu
ENST00000696079.1:c.604C>G (ADA)	ENSP00000512378.1:p.Gln202Glu
ENST00000696080.1:c.604C>G (ADA)	ENSP00000512379.1:p.Gln202Glu
ENST00000696081.1:n.723C>G (ADA)
ENST00000696082.1:c.682C>G (ADA)	ENSP00000512380.1:p.Gln228Glu
ENST00000696083.1:n.1485C>G (ADA)
ENST00000696084.1:n.705C>G (ADA)
ENST00000696104.1:c.363-1274C>G (ADA)	ENSP00000512399.1:n.363-1274C>G
ENST00000696105.1:c.*145C>G (ADA)	ENSP00000512400.1:n.*145C>G
ENST00000372874.9:c.604C>G (ADA) MANE Select	ENSP00000361965.4:p.Gln202Glu
ENST00000372874.8:c.604C>G (ADA)	ENSP00000361965.4:p.Gln202Glu
ENST00000372887.5:c.*228G>C (PKIG)	ENSP00000361978.1:n.*228G>C
ENST00000464097.5:n.278C>G (ADA)
ENST00000492931.5:n.688C>G (ADA)
ENST00000536532.5:c.604C>G (ADA)	ENSP00000440946.1:p.Gln202Glu
ENST00000537820.1:c.604C>G (ADA)	ENSP00000441818.1:p.Gln202Glu
ENST00000539235.5:c.219-1126C>G (ADA)	ENSP00000446464.1:n.219-1126C>G
NM_000022.2:c.604C>G , LRG_16t1:c.604C>G (ADA)	NP_000013.2:p.Gln202Glu
XM_005260236.2:c.604C>G (ADA)	XP_005260293.1:p.Gln202Glu
XM_011528478.1:c.199C>G (ADA)	XP_011526780.1:p.Gln67Glu
XM_011528479.1:c.199C>G (ADA)	XP_011526781.1:p.Gln67Glu
XR_244129.1:n.658C>G (ADA)
NM_000022.3:c.604C>G (ADA)	NP_000013.2:p.Gln202Glu
NM_001322050.1:c.199C>G (ADA)	NP_001308979.1:p.Gln67Glu
NM_001322051.1:c.604C>G (ADA)	NP_001308980.1:p.Gln202Glu
NR_136160.1:n.755C>G (ADA)
NM_000022.4:c.604C>G (ADA) MANE Select	NP_000013.2:p.Gln202Glu
NM_001322050.2:c.199C>G (ADA)	NP_001308979.1:p.Gln67Glu
NM_001322051.2:c.604C>G (ADA)	NP_001308980.1:p.Gln202Glu
NR_136160.2:n.696C>G (ADA)