Canonical Allele Identifier: CA315433044

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs778199825
• MyVariant Identifiers: chr20:g.43248696A>G (hg19) ; chr20:g.44620055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620055A>G , CM000682.2:g.44620055A>G	GRCh38
NC_000020.10:g.43248696A>G , CM000682.1:g.43248696A>G	GRCh37
NC_000020.9:g.42682110A>G	NCBI36
NG_007385.1:g.36681T>C , LRG_16:g.36681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1246-208T>C (ADA)
ENST00000536076.2:c.926-208T>C (ADA)	ENSP00000512234.1:n.926-208T>C
ENST00000536532.6:c.*222-208T>C (ADA)	ENSP00000440946.1:n.*222-208T>C
ENST00000537820.2:c.1007-208T>C (ADA)	ENSP00000441818.1:n.1007-208T>C
ENST00000539235.6:c.*463-208T>C (ADA)	ENSP00000446464.1:n.*463-208T>C
ENST00000695889.1:c.554-208T>C (ADA)	ENSP00000512240.1:n.554-208T>C
ENST00000695890.1:n.5433T>C (ADA)
ENST00000695891.1:c.619-208T>C (ADA)	ENSP00000512241.1:n.619-208T>C
ENST00000695927.1:c.1157-208T>C (ADA)	ENSP00000512270.1:n.1157-208T>C
ENST00000695949.1:c.1004-208T>C (ADA)	ENSP00000512281.1:n.1004-208T>C
ENST00000695956.1:c.234-195T>C (ADA)
ENST00000695957.1:c.*570-208T>C (ADA)	ENSP00000512286.1:n.*570-208T>C
ENST00000695991.1:c.617-208T>C (ADA)	ENSP00000512314.1:n.617-208T>C
ENST00000695992.1:c.*465T>C (ADA)	ENSP00000512315.1:n.*465T>C
ENST00000695993.1:c.1079-110T>C (ADA)	ENSP00000512316.1:n.1079-110T>C
ENST00000695994.1:c.*222-208T>C (ADA)	ENSP00000512317.1:n.*222-208T>C
ENST00000695995.1:c.689-208T>C (ADA)	ENSP00000512318.1:n.689-208T>C
ENST00000695996.1:n.1161-208T>C (ADA)
ENST00000696003.1:n.2863-208T>C (ADA)
ENST00000696004.1:n.2106T>C (ADA)
ENST00000696005.1:c.772T>C (ADA)
ENST00000696006.1:c.*222-208T>C (ADA)	ENSP00000512325.1:n.*222-208T>C
ENST00000696007.1:c.1006-208T>C (ADA)	ENSP00000512326.1:n.1006-208T>C
ENST00000696008.1:n.3676T>C (ADA)
ENST00000696017.1:c.*65T>C (ADA)	ENSP00000512333.1:n.*65T>C
ENST00000696034.1:c.*221+244T>C (ADA)	ENSP00000512343.1:n.*221+244T>C
ENST00000696035.1:n.1508T>C (ADA)
ENST00000696036.1:n.2023T>C (ADA)
ENST00000696037.1:n.2756-208T>C (ADA)
ENST00000696038.1:c.*1079T>C (ADA)	ENSP00000512344.1:n.*1079T>C
ENST00000696039.1:n.1443-208T>C (ADA)
ENST00000696058.1:c.1076-110T>C (ADA)	ENSP00000512361.1:n.1076-110T>C
ENST00000696059.1:c.*1024-208T>C (ADA)	ENSP00000512362.1:n.*1024-208T>C
ENST00000696060.1:c.1148-208T>C (ADA)	ENSP00000512363.1:n.1148-208T>C
ENST00000696061.1:c.1076-208T>C (ADA)	ENSP00000512364.1:n.1076-208T>C
ENST00000696062.1:c.1142-208T>C (ADA)	ENSP00000512365.1:n.1142-208T>C
ENST00000696063.1:c.1154-208T>C (ADA)	ENSP00000512366.1:n.1154-208T>C
ENST00000696064.1:c.926-208T>C (ADA)	ENSP00000512367.1:n.926-208T>C
ENST00000696065.1:c.401-208T>C (ADA)	ENSP00000512368.1:n.401-208T>C
ENST00000696072.1:n.677T>C (ADA)
ENST00000696073.1:n.1390-208T>C (ADA)
ENST00000696074.1:n.630-208T>C (ADA)
ENST00000696075.1:c.*1049-208T>C (ADA)	ENSP00000512374.1:n.*1049-208T>C
ENST00000696076.1:c.*65T>C (ADA)	ENSP00000512375.1:n.*65T>C
ENST00000696077.1:c.1073-208T>C (ADA)	ENSP00000512376.1:n.1073-208T>C
ENST00000696078.1:c.1076-208T>C (ADA)	ENSP00000512377.1:n.1076-208T>C
ENST00000696079.1:c.1076-213T>C (ADA)	ENSP00000512378.1:n.1076-213T>C
ENST00000696080.1:c.1079-213T>C (ADA)	ENSP00000512379.1:n.1079-213T>C
ENST00000696081.1:n.1441T>C (ADA)
ENST00000696082.1:c.1154-208T>C (ADA)	ENSP00000512380.1:n.1154-208T>C
ENST00000696083.1:n.2036-208T>C (ADA)
ENST00000696084.1:n.1499T>C (ADA)
ENST00000696104.1:c.*148-208T>C (ADA)	ENSP00000512399.1:n.*148-208T>C
ENST00000372874.9:c.1079-208T>C (ADA) MANE Select	ENSP00000361965.4:n.1079-208T>C
ENST00000372874.8:c.1079-208T>C (ADA)	ENSP00000361965.4:n.1079-208T>C
ENST00000372887.5:c.152-3878A>G (PKIG)	ENSP00000361978.1:n.152-3878A>G
ENST00000464097.5:n.1445-208T>C (ADA)
ENST00000492931.5:n.1239-208T>C (ADA)
ENST00000536532.5:c.*222-208T>C (ADA)	ENSP00000440946.1:n.*222-208T>C
ENST00000537820.1:c.1007-208T>C (ADA)	ENSP00000441818.1:n.1007-208T>C
ENST00000539235.5:c.*463-208T>C (ADA)	ENSP00000446464.1:n.*463-208T>C
NM_000022.2:c.1079-208T>C , LRG_16t1:c.1079-208T>C (ADA)	NP_000013.2:n.1079-208T>C
XM_005260236.2:c.1007-208T>C (ADA)	XP_005260293.1:n.1007-208T>C
XM_011528478.1:c.674-208T>C (ADA)	XP_011526780.1:n.674-208T>C
XM_011528479.1:c.674-208T>C (ADA)	XP_011526781.1:n.674-208T>C
XR_244129.1:n.1068-208T>C (ADA)
NM_000022.3:c.1079-208T>C (ADA)	NP_000013.2:n.1079-208T>C
NM_001322050.1:c.674-208T>C (ADA)	NP_001308979.1:n.674-208T>C
NM_001322051.1:c.1007-208T>C (ADA)	NP_001308980.1:n.1007-208T>C
NR_136160.1:n.1165-208T>C (ADA)
NM_000022.4:c.1079-208T>C (ADA) MANE Select	NP_000013.2:n.1079-208T>C
NM_001322050.2:c.674-208T>C (ADA)	NP_001308979.1:n.674-208T>C
NM_001322051.2:c.1007-208T>C (ADA)	NP_001308980.1:n.1007-208T>C
NR_136160.2:n.1106-208T>C (ADA)