Canonical Allele Identifier: CA315433047

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs967466341
• gnomAD v2: 20-43248716-C-T
• MyVariant Identifiers: chr20:g.43248716C>T (hg19) ; chr20:g.44620075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620075C>T , CM000682.2:g.44620075C>T	GRCh38
NC_000020.10:g.43248716C>T , CM000682.1:g.43248716C>T	GRCh37
NC_000020.9:g.42682130C>T	NCBI36
NG_007385.1:g.36661G>A , LRG_16:g.36661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+224G>A (ADA)
ENST00000536076.2:c.925+224G>A (ADA)	ENSP00000512234.1:n.925+224G>A
ENST00000536532.6:c.*221+224G>A (ADA)	ENSP00000440946.1:n.*221+224G>A
ENST00000537820.2:c.1006+224G>A (ADA)	ENSP00000441818.1:n.1006+224G>A
ENST00000539235.6:c.*462+224G>A (ADA)	ENSP00000446464.1:n.*462+224G>A
ENST00000695889.1:c.553+224G>A (ADA)	ENSP00000512240.1:n.553+224G>A
ENST00000695890.1:n.5413G>A (ADA)
ENST00000695891.1:c.618+224G>A (ADA)	ENSP00000512241.1:n.618+224G>A
ENST00000695927.1:c.1156+224G>A (ADA)	ENSP00000512270.1:n.1156+224G>A
ENST00000695949.1:c.1003+224G>A (ADA)	ENSP00000512281.1:n.1003+224G>A
ENST00000695956.1:c.234-215G>A (ADA)
ENST00000695957.1:c.*569+224G>A (ADA)	ENSP00000512286.1:n.*569+224G>A
ENST00000695991.1:c.616+224G>A (ADA)	ENSP00000512314.1:n.616+224G>A
ENST00000695992.1:c.*445G>A (ADA)	ENSP00000512315.1:n.*445G>A
ENST00000695993.1:c.1079-130G>A (ADA)	ENSP00000512316.1:n.1079-130G>A
ENST00000695994.1:c.*221+224G>A (ADA)	ENSP00000512317.1:n.*221+224G>A
ENST00000695995.1:c.688+224G>A (ADA)	ENSP00000512318.1:n.688+224G>A
ENST00000695996.1:n.1160+224G>A (ADA)
ENST00000696003.1:n.2862+224G>A (ADA)
ENST00000696004.1:n.2086G>A (ADA)
ENST00000696005.1:c.752G>A (ADA)
ENST00000696006.1:c.*221+224G>A (ADA)	ENSP00000512325.1:n.*221+224G>A
ENST00000696007.1:c.1005+224G>A (ADA)	ENSP00000512326.1:n.1005+224G>A
ENST00000696008.1:n.3656G>A (ADA)
ENST00000696017.1:c.*45G>A (ADA)	ENSP00000512333.1:n.*45G>A
ENST00000696034.1:c.*221+224G>A (ADA)	ENSP00000512343.1:n.*221+224G>A
ENST00000696035.1:n.1488G>A (ADA)
ENST00000696036.1:n.2003G>A (ADA)
ENST00000696037.1:n.2755+224G>A (ADA)
ENST00000696038.1:c.*1059G>A (ADA)	ENSP00000512344.1:n.*1059G>A
ENST00000696039.1:n.1442+224G>A (ADA)
ENST00000696058.1:c.1076-130G>A (ADA)	ENSP00000512361.1:n.1076-130G>A
ENST00000696059.1:c.*1023+224G>A (ADA)	ENSP00000512362.1:n.*1023+224G>A
ENST00000696060.1:c.1147+224G>A (ADA)	ENSP00000512363.1:n.1147+224G>A
ENST00000696061.1:c.1075+224G>A (ADA)	ENSP00000512364.1:n.1075+224G>A
ENST00000696062.1:c.1141+224G>A (ADA)	ENSP00000512365.1:n.1141+224G>A
ENST00000696063.1:c.1153+224G>A (ADA)	ENSP00000512366.1:n.1153+224G>A
ENST00000696064.1:c.925+224G>A (ADA)	ENSP00000512367.1:n.925+224G>A
ENST00000696065.1:c.400+224G>A (ADA)	ENSP00000512368.1:n.400+224G>A
ENST00000696072.1:n.657G>A (ADA)
ENST00000696073.1:n.1389+224G>A (ADA)
ENST00000696074.1:n.629+224G>A (ADA)
ENST00000696075.1:c.*1048+224G>A (ADA)	ENSP00000512374.1:n.*1048+224G>A
ENST00000696076.1:c.*45G>A (ADA)	ENSP00000512375.1:n.*45G>A
ENST00000696077.1:c.1072+224G>A (ADA)	ENSP00000512376.1:n.1072+224G>A
ENST00000696078.1:c.1075+224G>A (ADA)	ENSP00000512377.1:n.1075+224G>A
ENST00000696079.1:c.1075+224G>A (ADA)	ENSP00000512378.1:n.1075+224G>A
ENST00000696080.1:c.1078+224G>A (ADA)	ENSP00000512379.1:n.1078+224G>A
ENST00000696081.1:n.1421G>A (ADA)
ENST00000696082.1:c.1153+224G>A (ADA)	ENSP00000512380.1:n.1153+224G>A
ENST00000696083.1:n.2035+224G>A (ADA)
ENST00000696084.1:n.1479G>A (ADA)
ENST00000696104.1:c.*147+224G>A (ADA)	ENSP00000512399.1:n.*147+224G>A
ENST00000372874.9:c.1078+224G>A (ADA) MANE Select	ENSP00000361965.4:n.1078+224G>A
ENST00000372874.8:c.1078+224G>A (ADA)	ENSP00000361965.4:n.1078+224G>A
ENST00000372887.5:c.152-3858C>T (PKIG)	ENSP00000361978.1:n.152-3858C>T
ENST00000464097.5:n.1444+224G>A (ADA)
ENST00000492931.5:n.1238+224G>A (ADA)
ENST00000536532.5:c.*221+224G>A (ADA)	ENSP00000440946.1:n.*221+224G>A
ENST00000537820.1:c.1006+224G>A (ADA)	ENSP00000441818.1:n.1006+224G>A
ENST00000539235.5:c.*462+224G>A (ADA)	ENSP00000446464.1:n.*462+224G>A
NM_000022.2:c.1078+224G>A , LRG_16t1:c.1078+224G>A (ADA)	NP_000013.2:n.1078+224G>A
XM_005260236.2:c.1006+224G>A (ADA)	XP_005260293.1:n.1006+224G>A
XM_011528478.1:c.673+224G>A (ADA)	XP_011526780.1:n.673+224G>A
XM_011528479.1:c.673+224G>A (ADA)	XP_011526781.1:n.673+224G>A
XR_244129.1:n.1067+224G>A (ADA)
NM_000022.3:c.1078+224G>A (ADA)	NP_000013.2:n.1078+224G>A
NM_001322050.1:c.673+224G>A (ADA)	NP_001308979.1:n.673+224G>A
NM_001322051.1:c.1006+224G>A (ADA)	NP_001308980.1:n.1006+224G>A
NR_136160.1:n.1164+224G>A (ADA)
NM_000022.4:c.1078+224G>A (ADA) MANE Select	NP_000013.2:n.1078+224G>A
NM_001322050.2:c.673+224G>A (ADA)	NP_001308979.1:n.673+224G>A
NM_001322051.2:c.1006+224G>A (ADA)	NP_001308980.1:n.1006+224G>A
NR_136160.2:n.1105+224G>A (ADA)