Canonical Allele Identifier: CA2652989823

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44620257-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620257C>G , CM000682.2:g.44620257C>G	GRCh38
NC_000020.10:g.43248898C>G , CM000682.1:g.43248898C>G	GRCh37
NC_000020.9:g.42682312C>G	NCBI36
NG_007385.1:g.36479G>C , LRG_16:g.36479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+42G>C (ADA)
ENST00000536076.2:c.925+42G>C (ADA)	ENSP00000512234.1:n.925+42G>C
ENST00000536532.6:c.*221+42G>C (ADA)	ENSP00000440946.1:n.*221+42G>C
ENST00000537820.2:c.1006+42G>C (ADA)	ENSP00000441818.1:n.1006+42G>C
ENST00000539235.6:c.*462+42G>C (ADA)	ENSP00000446464.1:n.*462+42G>C
ENST00000695889.1:c.553+42G>C (ADA)	ENSP00000512240.1:n.553+42G>C
ENST00000695890.1:n.5231G>C (ADA)
ENST00000695891.1:c.618+42G>C (ADA)	ENSP00000512241.1:n.618+42G>C
ENST00000695927.1:c.1156+42G>C (ADA)	ENSP00000512270.1:n.1156+42G>C
ENST00000695949.1:c.1003+42G>C (ADA)	ENSP00000512281.1:n.1003+42G>C
ENST00000695956.1:c.233+42G>C (ADA)
ENST00000695957.1:c.*569+42G>C (ADA)	ENSP00000512286.1:n.*569+42G>C
ENST00000695991.1:c.616+42G>C (ADA)	ENSP00000512314.1:n.616+42G>C
ENST00000695992.1:c.*263G>C (ADA)	ENSP00000512315.1:n.*263G>C
ENST00000695993.1:c.1078+42G>C (ADA)	ENSP00000512316.1:n.1078+42G>C
ENST00000695994.1:c.*221+42G>C (ADA)	ENSP00000512317.1:n.*221+42G>C
ENST00000695995.1:c.688+42G>C (ADA)	ENSP00000512318.1:n.688+42G>C
ENST00000695996.1:n.1160+42G>C (ADA)
ENST00000696003.1:n.2862+42G>C (ADA)
ENST00000696004.1:n.1904G>C (ADA)
ENST00000696005.1:c.570G>C (ADA)
ENST00000696006.1:c.*221+42G>C (ADA)	ENSP00000512325.1:n.*221+42G>C
ENST00000696007.1:c.1005+42G>C (ADA)	ENSP00000512326.1:n.1005+42G>C
ENST00000696008.1:n.3474G>C (ADA)
ENST00000696017.1:c.1117G>C (ADA)	ENSP00000512333.1:p.Ala373Pro
ENST00000696034.1:c.*221+42G>C (ADA)	ENSP00000512343.1:n.*221+42G>C
ENST00000696035.1:n.1306G>C (ADA)
ENST00000696036.1:n.1821G>C (ADA)
ENST00000696037.1:n.2755+42G>C (ADA)
ENST00000696038.1:c.*877G>C (ADA)	ENSP00000512344.1:n.*877G>C
ENST00000696039.1:n.1442+42G>C (ADA)
ENST00000696058.1:c.1075+42G>C (ADA)	ENSP00000512361.1:n.1075+42G>C
ENST00000696059.1:c.*1023+42G>C (ADA)	ENSP00000512362.1:n.*1023+42G>C
ENST00000696060.1:c.1147+42G>C (ADA)	ENSP00000512363.1:n.1147+42G>C
ENST00000696061.1:c.1075+42G>C (ADA)	ENSP00000512364.1:n.1075+42G>C
ENST00000696062.1:c.1141+42G>C (ADA)	ENSP00000512365.1:n.1141+42G>C
ENST00000696063.1:c.1153+42G>C (ADA)	ENSP00000512366.1:n.1153+42G>C
ENST00000696064.1:c.925+42G>C (ADA)	ENSP00000512367.1:n.925+42G>C
ENST00000696065.1:c.400+42G>C (ADA)	ENSP00000512368.1:n.400+42G>C
ENST00000696072.1:n.475G>C (ADA)
ENST00000696073.1:n.1389+42G>C (ADA)
ENST00000696074.1:n.629+42G>C (ADA)
ENST00000696075.1:c.*1048+42G>C (ADA)	ENSP00000512374.1:n.*1048+42G>C
ENST00000696076.1:c.1189G>C (ADA)	ENSP00000512375.1:p.Ala397Pro
ENST00000696077.1:c.1072+42G>C (ADA)	ENSP00000512376.1:n.1072+42G>C
ENST00000696078.1:c.1075+42G>C (ADA)	ENSP00000512377.1:n.1075+42G>C
ENST00000696079.1:c.1075+42G>C (ADA)	ENSP00000512378.1:n.1075+42G>C
ENST00000696080.1:c.1078+42G>C (ADA)	ENSP00000512379.1:n.1078+42G>C
ENST00000696081.1:n.1239G>C (ADA)
ENST00000696082.1:c.1153+42G>C (ADA)	ENSP00000512380.1:n.1153+42G>C
ENST00000696083.1:n.2035+42G>C (ADA)
ENST00000696084.1:n.1297G>C (ADA)
ENST00000696104.1:c.*147+42G>C (ADA)	ENSP00000512399.1:n.*147+42G>C
ENST00000372874.9:c.1078+42G>C (ADA) MANE Select	ENSP00000361965.4:n.1078+42G>C
ENST00000372874.8:c.1078+42G>C (ADA)	ENSP00000361965.4:n.1078+42G>C
ENST00000372887.5:c.152-3676C>G (PKIG)	ENSP00000361978.1:n.152-3676C>G
ENST00000464097.5:n.1444+42G>C (ADA)
ENST00000492931.5:n.1238+42G>C (ADA)
ENST00000536532.5:c.*221+42G>C (ADA)	ENSP00000440946.1:n.*221+42G>C
ENST00000537820.1:c.1006+42G>C (ADA)	ENSP00000441818.1:n.1006+42G>C
ENST00000539235.5:c.*462+42G>C (ADA)	ENSP00000446464.1:n.*462+42G>C
NM_000022.2:c.1078+42G>C , LRG_16t1:c.1078+42G>C (ADA)	NP_000013.2:n.1078+42G>C
XM_005260236.2:c.1006+42G>C (ADA)	XP_005260293.1:n.1006+42G>C
XM_011528478.1:c.673+42G>C (ADA)	XP_011526780.1:n.673+42G>C
XM_011528479.1:c.673+42G>C (ADA)	XP_011526781.1:n.673+42G>C
XR_244129.1:n.1067+42G>C (ADA)
NM_000022.3:c.1078+42G>C (ADA)	NP_000013.2:n.1078+42G>C
NM_001322050.1:c.673+42G>C (ADA)	NP_001308979.1:n.673+42G>C
NM_001322051.1:c.1006+42G>C (ADA)	NP_001308980.1:n.1006+42G>C
NR_136160.1:n.1164+42G>C (ADA)
NM_000022.4:c.1078+42G>C (ADA) MANE Select	NP_000013.2:n.1078+42G>C
NM_001322050.2:c.673+42G>C (ADA)	NP_001308979.1:n.673+42G>C
NM_001322051.2:c.1006+42G>C (ADA)	NP_001308980.1:n.1006+42G>C
NR_136160.2:n.1105+42G>C (ADA)