Canonical Allele Identifier: CA409118600

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs1379818118
• MyVariant Identifiers: chr20:g.43249002T>C (hg19) ; chr20:g.44620361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620361T>C , CM000682.2:g.44620361T>C	GRCh38
NC_000020.10:g.43249002T>C , CM000682.1:g.43249002T>C	GRCh37
NC_000020.9:g.42682416T>C	NCBI36
NG_007385.1:g.36375A>G , LRG_16:g.36375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1183A>G (ADA)
ENST00000536076.2:c.863A>G (ADA)	ENSP00000512234.1:p.Glu288Gly
ENST00000536532.6:c.*159A>G (ADA)	ENSP00000440946.1:n.*159A>G
ENST00000537820.2:c.944A>G (ADA)	ENSP00000441818.1:p.Glu315Gly
ENST00000539235.6:c.*400A>G (ADA)	ENSP00000446464.1:n.*400A>G
ENST00000695889.1:c.491A>G (ADA)	ENSP00000512240.1:p.Glu164Gly
ENST00000695890.1:n.5127A>G (ADA)
ENST00000695891.1:c.556A>G (ADA)	ENSP00000512241.1:n.556A>G
ENST00000695927.1:c.1094A>G (ADA)	ENSP00000512270.1:p.Glu365Gly
ENST00000695949.1:c.941A>G (ADA)	ENSP00000512281.1:p.Glu314Gly
ENST00000695956.1:c.171A>G (ADA)
ENST00000695957.1:c.*507A>G (ADA)	ENSP00000512286.1:n.*507A>G
ENST00000695991.1:c.554A>G (ADA)	ENSP00000512314.1:p.Glu185Gly
ENST00000695992.1:c.*159A>G (ADA)	ENSP00000512315.1:n.*159A>G
ENST00000695993.1:c.1016A>G (ADA)	ENSP00000512316.1:p.Glu339Gly
ENST00000695994.1:c.*159A>G (ADA)	ENSP00000512317.1:n.*159A>G
ENST00000695995.1:c.626A>G (ADA)	ENSP00000512318.1:p.Glu209Gly
ENST00000695996.1:n.1098A>G (ADA)
ENST00000696003.1:n.2800A>G (ADA)
ENST00000696004.1:n.1800A>G (ADA)
ENST00000696005.1:c.466A>G (ADA)
ENST00000696006.1:c.*159A>G (ADA)	ENSP00000512325.1:n.*159A>G
ENST00000696007.1:c.943A>G (ADA)	ENSP00000512326.1:n.943A>G
ENST00000696008.1:n.3370A>G (ADA)
ENST00000696017.1:c.1013A>G (ADA)	ENSP00000512333.1:p.Glu338Gly
ENST00000696034.1:c.*159A>G (ADA)	ENSP00000512343.1:n.*159A>G
ENST00000696035.1:n.1202A>G (ADA)
ENST00000696036.1:n.1717A>G (ADA)
ENST00000696037.1:n.2693A>G (ADA)
ENST00000696038.1:c.*773A>G (ADA)	ENSP00000512344.1:n.*773A>G
ENST00000696039.1:n.1380A>G (ADA)
ENST00000696058.1:c.1013A>G (ADA)	ENSP00000512361.1:p.Glu338Gly
ENST00000696059.1:c.*961A>G (ADA)	ENSP00000512362.1:n.*961A>G
ENST00000696060.1:c.1085A>G (ADA)	ENSP00000512363.1:p.Glu362Gly
ENST00000696061.1:c.1013A>G (ADA)	ENSP00000512364.1:p.Glu338Gly
ENST00000696062.1:c.1079A>G (ADA)	ENSP00000512365.1:p.Glu360Gly
ENST00000696063.1:c.1091A>G (ADA)	ENSP00000512366.1:p.Glu364Gly
ENST00000696064.1:c.863A>G (ADA)	ENSP00000512367.1:p.Glu288Gly
ENST00000696065.1:c.338A>G (ADA)	ENSP00000512368.1:p.Glu113Gly
ENST00000696072.1:n.371A>G (ADA)
ENST00000696073.1:n.1327A>G (ADA)
ENST00000696074.1:n.567A>G (ADA)
ENST00000696075.1:c.*986A>G (ADA)	ENSP00000512374.1:n.*986A>G
ENST00000696076.1:c.1085A>G (ADA)	ENSP00000512375.1:p.Glu362Gly
ENST00000696077.1:c.1010A>G (ADA)	ENSP00000512376.1:p.Glu337Gly
ENST00000696078.1:c.1013A>G (ADA)	ENSP00000512377.1:p.Glu338Gly
ENST00000696079.1:c.1013A>G (ADA)	ENSP00000512378.1:p.Glu338Gly
ENST00000696080.1:c.1016A>G (ADA)	ENSP00000512379.1:p.Glu339Gly
ENST00000696081.1:n.1135A>G (ADA)
ENST00000696082.1:c.1091A>G (ADA)	ENSP00000512380.1:p.Glu364Gly
ENST00000696083.1:n.1973A>G (ADA)
ENST00000696084.1:n.1193A>G (ADA)
ENST00000696104.1:c.*85A>G (ADA)	ENSP00000512399.1:n.*85A>G
ENST00000372874.9:c.1016A>G (ADA) MANE Select	ENSP00000361965.4:p.Glu339Gly
ENST00000372874.8:c.1016A>G (ADA)	ENSP00000361965.4:p.Glu339Gly
ENST00000372887.5:c.152-3572T>C (PKIG)	ENSP00000361978.1:n.152-3572T>C
ENST00000464097.5:n.1382A>G (ADA)
ENST00000492931.5:n.1176A>G (ADA)
ENST00000536532.5:c.*159A>G (ADA)	ENSP00000440946.1:n.*159A>G
ENST00000537820.1:c.944A>G (ADA)	ENSP00000441818.1:p.Glu315Gly
ENST00000539235.5:c.*400A>G (ADA)	ENSP00000446464.1:n.*400A>G
NM_000022.2:c.1016A>G , LRG_16t1:c.1016A>G (ADA)	NP_000013.2:p.Glu339Gly
XM_005260236.2:c.944A>G (ADA)	XP_005260293.1:p.Glu315Gly
XM_011528478.1:c.611A>G (ADA)	XP_011526780.1:p.Glu204Gly
XM_011528479.1:c.611A>G (ADA)	XP_011526781.1:p.Glu204Gly
XR_244129.1:n.1005A>G (ADA)
NM_000022.3:c.1016A>G (ADA)	NP_000013.2:p.Glu339Gly
NM_001322050.1:c.611A>G (ADA)	NP_001308979.1:p.Glu204Gly
NM_001322051.1:c.944A>G (ADA)	NP_001308980.1:p.Glu315Gly
NR_136160.1:n.1102A>G (ADA)
NM_000022.4:c.1016A>G (ADA) MANE Select	NP_000013.2:p.Glu339Gly
NM_001322050.2:c.611A>G (ADA)	NP_001308979.1:p.Glu204Gly
NM_001322051.2:c.944A>G (ADA)	NP_001308980.1:p.Glu315Gly
NR_136160.2:n.1043A>G (ADA)