Canonical Allele Identifier: CA409120284

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251534C>G (hg19) ; chr20:g.44622893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622893C>G , CM000682.2:g.44622893C>G	GRCh38
NC_000020.10:g.43251534C>G , CM000682.1:g.43251534C>G	GRCh37
NC_000020.9:g.42684948C>G	NCBI36
NG_007385.1:g.33843G>C , LRG_16:g.33843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.883G>C (ADA)
ENST00000536076.2:c.563G>C (ADA)	ENSP00000512234.1:p.Gly188Ala
ENST00000536532.6:c.716G>C (ADA)	ENSP00000440946.1:p.Gly239Ala
ENST00000537820.2:c.644G>C (ADA)	ENSP00000441818.1:p.Gly215Ala
ENST00000539235.6:c.*100G>C (ADA)	ENSP00000446464.1:n.*100G>C
ENST00000695889.1:c.256G>C (ADA)	ENSP00000512240.1:p.Ala86Pro
ENST00000695890.1:n.2595G>C (ADA)
ENST00000695891.1:c.256G>C (ADA)	ENSP00000512241.1:p.Ala86Pro
ENST00000695927.1:c.794G>C (ADA)	ENSP00000512270.1:p.Gly265Ala
ENST00000695949.1:c.641G>C (ADA)	ENSP00000512281.1:p.Gly214Ala
ENST00000695957.1:c.*207G>C (ADA)	ENSP00000512286.1:n.*207G>C
ENST00000695991.1:c.254G>C (ADA)	ENSP00000512314.1:p.Gly85Ala
ENST00000695992.1:c.716G>C (ADA)	ENSP00000512315.1:p.Gly239Ala
ENST00000695993.1:c.716G>C (ADA)	ENSP00000512316.1:p.Gly239Ala
ENST00000695994.1:c.689G>C (ADA)	ENSP00000512317.1:p.Gly230Ala
ENST00000695995.1:c.326G>C (ADA)	ENSP00000512318.1:p.Gly109Ala
ENST00000695996.1:n.863G>C (ADA)
ENST00000696003.1:n.884G>C (ADA)
ENST00000696004.1:n.884G>C (ADA)
ENST00000696005.1:c.166G>C (ADA)
ENST00000696006.1:c.644G>C (ADA)	ENSP00000512325.1:p.Gly215Ala
ENST00000696007.1:c.643G>C (ADA)	ENSP00000512326.1:n.643G>C
ENST00000696008.1:n.3070G>C (ADA)
ENST00000696017.1:c.713G>C (ADA)	ENSP00000512333.1:p.Gly238Ala
ENST00000696034.1:c.716G>C (ADA)	ENSP00000512343.1:p.Gly239Ala
ENST00000696035.1:n.902G>C (ADA)
ENST00000696036.1:n.1482G>C (ADA)
ENST00000696037.1:n.2393G>C (ADA)
ENST00000696038.1:c.*538G>C (ADA)	ENSP00000512344.1:n.*538G>C
ENST00000696039.1:n.1080G>C (ADA)
ENST00000696058.1:c.713G>C (ADA)	ENSP00000512361.1:p.Gly238Ala
ENST00000696059.1:c.*661G>C (ADA)	ENSP00000512362.1:n.*661G>C
ENST00000696060.1:c.785G>C (ADA)	ENSP00000512363.1:p.Gly262Ala
ENST00000696061.1:c.713G>C (ADA)	ENSP00000512364.1:p.Gly238Ala
ENST00000696062.1:c.779G>C (ADA)	ENSP00000512365.1:p.Gly260Ala
ENST00000696063.1:c.791G>C (ADA)	ENSP00000512366.1:p.Gly264Ala
ENST00000696064.1:c.563G>C (ADA)	ENSP00000512367.1:p.Gly188Ala
ENST00000696065.1:c.103G>C (ADA)	ENSP00000512368.1:p.Ala35Pro
ENST00000696073.1:n.1027G>C (ADA)
ENST00000696074.1:n.332G>C (ADA)
ENST00000696075.1:c.*686G>C (ADA)	ENSP00000512374.1:n.*686G>C
ENST00000696076.1:c.785G>C (ADA)	ENSP00000512375.1:p.Gly262Ala
ENST00000696077.1:c.710G>C (ADA)	ENSP00000512376.1:p.Gly237Ala
ENST00000696078.1:c.713G>C (ADA)	ENSP00000512377.1:p.Gly238Ala
ENST00000696079.1:c.713G>C (ADA)	ENSP00000512378.1:p.Gly238Ala
ENST00000696080.1:c.716G>C (ADA)	ENSP00000512379.1:p.Gly239Ala
ENST00000696081.1:n.835G>C (ADA)
ENST00000696082.1:c.791G>C (ADA)	ENSP00000512380.1:p.Gly264Ala
ENST00000696083.1:n.1673G>C (ADA)
ENST00000696084.1:n.893G>C (ADA)
ENST00000696104.1:c.400G>C (ADA)	ENSP00000512399.1:p.Ala134Pro
ENST00000372874.9:c.716G>C (ADA) MANE Select	ENSP00000361965.4:p.Gly239Ala
ENST00000372874.8:c.716G>C (ADA)	ENSP00000361965.4:p.Gly239Ala
ENST00000372887.5:c.152-1040C>G (PKIG)	ENSP00000361978.1:n.152-1040C>G
ENST00000464097.5:n.466G>C (ADA)
ENST00000492931.5:n.876G>C (ADA)
ENST00000536532.5:c.716G>C (ADA)	ENSP00000440946.1:p.Gly239Ala
ENST00000537820.1:c.644G>C (ADA)	ENSP00000441818.1:p.Gly215Ala
ENST00000539235.5:c.*100G>C (ADA)	ENSP00000446464.1:n.*100G>C
NM_000022.2:c.716G>C , LRG_16t1:c.716G>C (ADA)	NP_000013.2:p.Gly239Ala
XM_005260236.2:c.644G>C (ADA)	XP_005260293.1:p.Gly215Ala
XM_011528478.1:c.311G>C (ADA)	XP_011526780.1:p.Gly104Ala
XM_011528479.1:c.311G>C (ADA)	XP_011526781.1:p.Gly104Ala
XR_244129.1:n.770G>C (ADA)
NM_000022.3:c.716G>C (ADA)	NP_000013.2:p.Gly239Ala
NM_001322050.1:c.311G>C (ADA)	NP_001308979.1:p.Gly104Ala
NM_001322051.1:c.644G>C (ADA)	NP_001308980.1:p.Gly215Ala
NR_136160.1:n.867G>C (ADA)
NM_000022.4:c.716G>C (ADA) MANE Select	NP_000013.2:p.Gly239Ala
NM_001322050.2:c.311G>C (ADA)	NP_001308979.1:p.Gly104Ala
NM_001322051.2:c.644G>C (ADA)	NP_001308980.1:p.Gly215Ala
NR_136160.2:n.808G>C (ADA)