Canonical Allele Identifier: CA409118670

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43249035T>G (hg19) ; chr20:g.44620394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620394T>G , CM000682.2:g.44620394T>G	GRCh38
NC_000020.10:g.43249035T>G , CM000682.1:g.43249035T>G	GRCh37
NC_000020.9:g.42682449T>G	NCBI36
NG_007385.1:g.36342A>C , LRG_16:g.36342A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.1150A>C (ADA)
ENST00000536076.2:c.830A>C (ADA)	ENSP00000512234.1:p.Asn277Thr
ENST00000536532.6:c.*126A>C (ADA)	ENSP00000440946.1:n.*126A>C
ENST00000537820.2:c.911A>C (ADA)	ENSP00000441818.1:p.Asn304Thr
ENST00000539235.6:c.*367A>C (ADA)	ENSP00000446464.1:n.*367A>C
ENST00000695889.1:c.458A>C (ADA)	ENSP00000512240.1:p.Asn153Thr
ENST00000695890.1:n.5094A>C (ADA)
ENST00000695891.1:c.523A>C (ADA)	ENSP00000512241.1:n.523A>C
ENST00000695927.1:c.1061A>C (ADA)	ENSP00000512270.1:p.Asn354Thr
ENST00000695949.1:c.908A>C (ADA)	ENSP00000512281.1:p.Asn303Thr
ENST00000695956.1:c.138A>C (ADA)
ENST00000695957.1:c.*474A>C (ADA)	ENSP00000512286.1:n.*474A>C
ENST00000695991.1:c.521A>C (ADA)	ENSP00000512314.1:p.Asn174Thr
ENST00000695992.1:c.*126A>C (ADA)	ENSP00000512315.1:n.*126A>C
ENST00000695993.1:c.983A>C (ADA)	ENSP00000512316.1:p.Asn328Thr
ENST00000695994.1:c.*126A>C (ADA)	ENSP00000512317.1:n.*126A>C
ENST00000695995.1:c.593A>C (ADA)	ENSP00000512318.1:p.Asn198Thr
ENST00000695996.1:n.1065A>C (ADA)
ENST00000696003.1:n.2767A>C (ADA)
ENST00000696004.1:n.1767A>C (ADA)
ENST00000696005.1:c.433A>C (ADA)
ENST00000696006.1:c.*126A>C (ADA)	ENSP00000512325.1:n.*126A>C
ENST00000696007.1:c.910A>C (ADA)	ENSP00000512326.1:n.910A>C
ENST00000696008.1:n.3337A>C (ADA)
ENST00000696017.1:c.980A>C (ADA)	ENSP00000512333.1:p.Asn327Thr
ENST00000696034.1:c.*126A>C (ADA)	ENSP00000512343.1:n.*126A>C
ENST00000696035.1:n.1169A>C (ADA)
ENST00000696036.1:n.1684A>C (ADA)
ENST00000696037.1:n.2660A>C (ADA)
ENST00000696038.1:c.*740A>C (ADA)	ENSP00000512344.1:n.*740A>C
ENST00000696039.1:n.1347A>C (ADA)
ENST00000696058.1:c.980A>C (ADA)	ENSP00000512361.1:p.Asn327Thr
ENST00000696059.1:c.*928A>C (ADA)	ENSP00000512362.1:n.*928A>C
ENST00000696060.1:c.1052A>C (ADA)	ENSP00000512363.1:p.Asn351Thr
ENST00000696061.1:c.980A>C (ADA)	ENSP00000512364.1:p.Asn327Thr
ENST00000696062.1:c.1046A>C (ADA)	ENSP00000512365.1:p.Asn349Thr
ENST00000696063.1:c.1058A>C (ADA)	ENSP00000512366.1:p.Asn353Thr
ENST00000696064.1:c.830A>C (ADA)	ENSP00000512367.1:p.Asn277Thr
ENST00000696065.1:c.305A>C (ADA)	ENSP00000512368.1:p.Asn102Thr
ENST00000696072.1:n.338A>C (ADA)
ENST00000696073.1:n.1294A>C (ADA)
ENST00000696074.1:n.534A>C (ADA)
ENST00000696075.1:c.*953A>C (ADA)	ENSP00000512374.1:n.*953A>C
ENST00000696076.1:c.1052A>C (ADA)	ENSP00000512375.1:p.Asn351Thr
ENST00000696077.1:c.977A>C (ADA)	ENSP00000512376.1:p.Asn326Thr
ENST00000696078.1:c.980A>C (ADA)	ENSP00000512377.1:p.Asn327Thr
ENST00000696079.1:c.980A>C (ADA)	ENSP00000512378.1:p.Asn327Thr
ENST00000696080.1:c.983A>C (ADA)	ENSP00000512379.1:p.Asn328Thr
ENST00000696081.1:n.1102A>C (ADA)
ENST00000696082.1:c.1058A>C (ADA)	ENSP00000512380.1:p.Asn353Thr
ENST00000696083.1:n.1940A>C (ADA)
ENST00000696084.1:n.1160A>C (ADA)
ENST00000696104.1:c.*52A>C (ADA)	ENSP00000512399.1:n.*52A>C
ENST00000372874.9:c.983A>C (ADA) MANE Select	ENSP00000361965.4:p.Asn328Thr
ENST00000372874.8:c.983A>C (ADA)	ENSP00000361965.4:p.Asn328Thr
ENST00000372887.5:c.152-3539T>G (PKIG)	ENSP00000361978.1:n.152-3539T>G
ENST00000464097.5:n.1349A>C (ADA)
ENST00000492931.5:n.1143A>C (ADA)
ENST00000536532.5:c.*126A>C (ADA)	ENSP00000440946.1:n.*126A>C
ENST00000537820.1:c.911A>C (ADA)	ENSP00000441818.1:p.Asn304Thr
ENST00000539235.5:c.*367A>C (ADA)	ENSP00000446464.1:n.*367A>C
NM_000022.2:c.983A>C , LRG_16t1:c.983A>C (ADA)	NP_000013.2:p.Asn328Thr
XM_005260236.2:c.911A>C (ADA)	XP_005260293.1:p.Asn304Thr
XM_011528478.1:c.578A>C (ADA)	XP_011526780.1:p.Asn193Thr
XM_011528479.1:c.578A>C (ADA)	XP_011526781.1:p.Asn193Thr
XR_244129.1:n.972A>C (ADA)
NM_000022.3:c.983A>C (ADA)	NP_000013.2:p.Asn328Thr
NM_001322050.1:c.578A>C (ADA)	NP_001308979.1:p.Asn193Thr
NM_001322051.1:c.911A>C (ADA)	NP_001308980.1:p.Asn304Thr
NR_136160.1:n.1069A>C (ADA)
NM_000022.4:c.983A>C (ADA) MANE Select	NP_000013.2:p.Asn328Thr
NM_001322050.2:c.578A>C (ADA)	NP_001308979.1:p.Asn193Thr
NM_001322051.2:c.911A>C (ADA)	NP_001308980.1:p.Asn304Thr
NR_136160.2:n.1010A>C (ADA)