Canonical Allele Identifier: CA315433023

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs748560293
• gnomAD v3: 20-44620042-T-C
• gnomAD v4: 20-44620042-T-C
• MyVariant Identifiers: chr20:g.43248683T>C (hg19) ; chr20:g.44620042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620042T>C , CM000682.2:g.44620042T>C	GRCh38
NC_000020.10:g.43248683T>C , CM000682.1:g.43248683T>C	GRCh37
NC_000020.9:g.42682097T>C	NCBI36
NG_007385.1:g.36694A>G , LRG_16:g.36694A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1246-195A>G (ADA)
ENST00000536076.2:c.926-195A>G (ADA)	ENSP00000512234.1:n.926-195A>G
ENST00000536532.6:c.*222-195A>G (ADA)	ENSP00000440946.1:n.*222-195A>G
ENST00000537820.2:c.1007-195A>G (ADA)	ENSP00000441818.1:n.1007-195A>G
ENST00000539235.6:c.*463-195A>G (ADA)	ENSP00000446464.1:n.*463-195A>G
ENST00000695889.1:c.554-195A>G (ADA)	ENSP00000512240.1:n.554-195A>G
ENST00000695890.1:n.5446A>G (ADA)
ENST00000695891.1:c.619-195A>G (ADA)	ENSP00000512241.1:n.619-195A>G
ENST00000695927.1:c.1157-195A>G (ADA)	ENSP00000512270.1:n.1157-195A>G
ENST00000695949.1:c.1004-195A>G (ADA)	ENSP00000512281.1:n.1004-195A>G
ENST00000695956.1:c.234-182A>G (ADA)
ENST00000695957.1:c.*570-195A>G (ADA)	ENSP00000512286.1:n.*570-195A>G
ENST00000695991.1:c.617-195A>G (ADA)	ENSP00000512314.1:n.617-195A>G
ENST00000695992.1:c.*478A>G (ADA)	ENSP00000512315.1:n.*478A>G
ENST00000695993.1:c.1079-97A>G (ADA)	ENSP00000512316.1:n.1079-97A>G
ENST00000695994.1:c.*222-195A>G (ADA)	ENSP00000512317.1:n.*222-195A>G
ENST00000695995.1:c.689-195A>G (ADA)	ENSP00000512318.1:n.689-195A>G
ENST00000695996.1:n.1161-195A>G (ADA)
ENST00000696003.1:n.2863-195A>G (ADA)
ENST00000696004.1:n.2119A>G (ADA)
ENST00000696005.1:c.785A>G (ADA)
ENST00000696006.1:c.*222-195A>G (ADA)	ENSP00000512325.1:n.*222-195A>G
ENST00000696007.1:c.1006-195A>G (ADA)	ENSP00000512326.1:n.1006-195A>G
ENST00000696008.1:n.3689A>G (ADA)
ENST00000696017.1:c.*78A>G (ADA)	ENSP00000512333.1:n.*78A>G
ENST00000696034.1:c.*221+257A>G (ADA)	ENSP00000512343.1:n.*221+257A>G
ENST00000696035.1:n.1521A>G (ADA)
ENST00000696036.1:n.2036A>G (ADA)
ENST00000696037.1:n.2756-195A>G (ADA)
ENST00000696038.1:c.*1092A>G (ADA)	ENSP00000512344.1:n.*1092A>G
ENST00000696039.1:n.1443-195A>G (ADA)
ENST00000696058.1:c.1076-97A>G (ADA)	ENSP00000512361.1:n.1076-97A>G
ENST00000696059.1:c.*1024-195A>G (ADA)	ENSP00000512362.1:n.*1024-195A>G
ENST00000696060.1:c.1148-195A>G (ADA)	ENSP00000512363.1:n.1148-195A>G
ENST00000696061.1:c.1076-195A>G (ADA)	ENSP00000512364.1:n.1076-195A>G
ENST00000696062.1:c.1142-195A>G (ADA)	ENSP00000512365.1:n.1142-195A>G
ENST00000696063.1:c.1154-195A>G (ADA)	ENSP00000512366.1:n.1154-195A>G
ENST00000696064.1:c.926-195A>G (ADA)	ENSP00000512367.1:n.926-195A>G
ENST00000696065.1:c.401-195A>G (ADA)	ENSP00000512368.1:n.401-195A>G
ENST00000696072.1:n.690A>G (ADA)
ENST00000696073.1:n.1390-195A>G (ADA)
ENST00000696074.1:n.630-195A>G (ADA)
ENST00000696075.1:c.*1049-195A>G (ADA)	ENSP00000512374.1:n.*1049-195A>G
ENST00000696076.1:c.*78A>G (ADA)	ENSP00000512375.1:n.*78A>G
ENST00000696077.1:c.1073-195A>G (ADA)	ENSP00000512376.1:n.1073-195A>G
ENST00000696078.1:c.1076-195A>G (ADA)	ENSP00000512377.1:n.1076-195A>G
ENST00000696079.1:c.1076-200A>G (ADA)	ENSP00000512378.1:n.1076-200A>G
ENST00000696080.1:c.1079-200A>G (ADA)	ENSP00000512379.1:n.1079-200A>G
ENST00000696081.1:n.1454A>G (ADA)
ENST00000696082.1:c.1154-195A>G (ADA)	ENSP00000512380.1:n.1154-195A>G
ENST00000696083.1:n.2036-195A>G (ADA)
ENST00000696084.1:n.1512A>G (ADA)
ENST00000696104.1:c.*148-195A>G (ADA)	ENSP00000512399.1:n.*148-195A>G
ENST00000372874.9:c.1079-195A>G (ADA) MANE Select	ENSP00000361965.4:n.1079-195A>G
ENST00000372874.8:c.1079-195A>G (ADA)	ENSP00000361965.4:n.1079-195A>G
ENST00000372887.5:c.152-3891T>C (PKIG)	ENSP00000361978.1:n.152-3891T>C
ENST00000464097.5:n.1445-195A>G (ADA)
ENST00000492931.5:n.1239-195A>G (ADA)
ENST00000536532.5:c.*222-195A>G (ADA)	ENSP00000440946.1:n.*222-195A>G
ENST00000537820.1:c.1007-195A>G (ADA)	ENSP00000441818.1:n.1007-195A>G
ENST00000539235.5:c.*463-195A>G (ADA)	ENSP00000446464.1:n.*463-195A>G
NM_000022.2:c.1079-195A>G , LRG_16t1:c.1079-195A>G (ADA)	NP_000013.2:n.1079-195A>G
XM_005260236.2:c.1007-195A>G (ADA)	XP_005260293.1:n.1007-195A>G
XM_011528478.1:c.674-195A>G (ADA)	XP_011526780.1:n.674-195A>G
XM_011528479.1:c.674-195A>G (ADA)	XP_011526781.1:n.674-195A>G
XR_244129.1:n.1068-195A>G (ADA)
NM_000022.3:c.1079-195A>G (ADA)	NP_000013.2:n.1079-195A>G
NM_001322050.1:c.674-195A>G (ADA)	NP_001308979.1:n.674-195A>G
NM_001322051.1:c.1007-195A>G (ADA)	NP_001308980.1:n.1007-195A>G
NR_136160.1:n.1165-195A>G (ADA)
NM_000022.4:c.1079-195A>G (ADA) MANE Select	NP_000013.2:n.1079-195A>G
NM_001322050.2:c.674-195A>G (ADA)	NP_001308979.1:n.674-195A>G
NM_001322051.2:c.1007-195A>G (ADA)	NP_001308980.1:n.1007-195A>G
NR_136160.2:n.1106-195A>G (ADA)