Canonical Allele Identifier: CA409120394

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44623017-A-G
• MyVariant Identifiers: chr20:g.43251658A>G (hg19) ; chr20:g.44623017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623017A>G , CM000682.2:g.44623017A>G	GRCh38
NC_000020.10:g.43251658A>G , CM000682.1:g.43251658A>G	GRCh37
NC_000020.9:g.42685072A>G	NCBI36
NG_007385.1:g.33719T>C , LRG_16:g.33719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.759T>C (ADA)
ENST00000536076.2:c.515T>C (ADA)	ENSP00000512234.1:p.Val172Ala
ENST00000536532.6:c.668T>C (ADA)	ENSP00000440946.1:p.Val223Ala
ENST00000537820.2:c.607-87T>C (ADA)	ENSP00000441818.1:n.607-87T>C
ENST00000539235.6:c.*52T>C (ADA)	ENSP00000446464.1:n.*52T>C
ENST00000695889.1:c.219-87T>C (ADA)	ENSP00000512240.1:n.219-87T>C
ENST00000695890.1:n.2471T>C (ADA)
ENST00000695891.1:c.219-87T>C (ADA)	ENSP00000512241.1:n.219-87T>C
ENST00000695927.1:c.746T>C (ADA)	ENSP00000512270.1:p.Val249Ala
ENST00000695949.1:c.604-87T>C (ADA)	ENSP00000512281.1:n.604-87T>C
ENST00000695957.1:c.*159T>C (ADA)	ENSP00000512286.1:n.*159T>C
ENST00000695991.1:c.217-87T>C (ADA)	ENSP00000512314.1:n.217-87T>C
ENST00000695992.1:c.668T>C (ADA)	ENSP00000512315.1:p.Val223Ala
ENST00000695993.1:c.668T>C (ADA)	ENSP00000512316.1:p.Val223Ala
ENST00000695994.1:c.651+17T>C (ADA)	ENSP00000512317.1:n.651+17T>C
ENST00000695995.1:c.278T>C (ADA)	ENSP00000512318.1:p.Val93Ala
ENST00000695996.1:n.739T>C (ADA)
ENST00000696003.1:n.760T>C (ADA)
ENST00000696004.1:n.760T>C (ADA)
ENST00000696005.1:c.129-87T>C (ADA)
ENST00000696006.1:c.607-87T>C (ADA)	ENSP00000512325.1:n.607-87T>C
ENST00000696007.1:c.519T>C (ADA)	ENSP00000512326.1:n.519T>C
ENST00000696008.1:n.2946T>C (ADA)
ENST00000696017.1:c.665T>C (ADA)	ENSP00000512333.1:p.Val222Ala
ENST00000696034.1:c.668T>C (ADA)	ENSP00000512343.1:p.Val223Ala
ENST00000696035.1:n.778T>C (ADA)
ENST00000696036.1:n.1358T>C (ADA)
ENST00000696037.1:n.2345T>C (ADA)
ENST00000696038.1:c.*414T>C (ADA)	ENSP00000512344.1:n.*414T>C
ENST00000696039.1:n.956T>C (ADA)
ENST00000696058.1:c.665T>C (ADA)	ENSP00000512361.1:p.Val222Ala
ENST00000696059.1:c.*613T>C (ADA)	ENSP00000512362.1:n.*613T>C
ENST00000696060.1:c.737T>C (ADA)	ENSP00000512363.1:p.Val246Ala
ENST00000696061.1:c.665T>C (ADA)	ENSP00000512364.1:p.Val222Ala
ENST00000696062.1:c.731T>C (ADA)	ENSP00000512365.1:p.Val244Ala
ENST00000696063.1:c.743T>C (ADA)	ENSP00000512366.1:p.Val248Ala
ENST00000696064.1:c.515T>C (ADA)	ENSP00000512367.1:p.Val172Ala
ENST00000696065.1:c.66-87T>C (ADA)	ENSP00000512368.1:n.66-87T>C
ENST00000696073.1:n.903T>C (ADA)
ENST00000696074.1:n.284T>C (ADA)
ENST00000696075.1:c.*638T>C (ADA)	ENSP00000512374.1:n.*638T>C
ENST00000696076.1:c.737T>C (ADA)	ENSP00000512375.1:p.Val246Ala
ENST00000696077.1:c.662T>C (ADA)	ENSP00000512376.1:p.Val221Ala
ENST00000696078.1:c.665T>C (ADA)	ENSP00000512377.1:p.Val222Ala
ENST00000696079.1:c.665T>C (ADA)	ENSP00000512378.1:p.Val222Ala
ENST00000696080.1:c.668T>C (ADA)	ENSP00000512379.1:p.Val223Ala
ENST00000696081.1:n.787T>C (ADA)
ENST00000696082.1:c.743T>C (ADA)	ENSP00000512380.1:p.Val248Ala
ENST00000696083.1:n.1549T>C (ADA)
ENST00000696084.1:n.769T>C (ADA)
ENST00000696104.1:c.363-87T>C (ADA)	ENSP00000512399.1:n.363-87T>C
ENST00000696105.1:c.*209T>C (ADA)	ENSP00000512400.1:n.*209T>C
ENST00000372874.9:c.668T>C (ADA) MANE Select	ENSP00000361965.4:p.Val223Ala
ENST00000372874.8:c.668T>C (ADA)	ENSP00000361965.4:p.Val223Ala
ENST00000372887.5:c.152-916A>G (PKIG)	ENSP00000361978.1:n.152-916A>G
ENST00000464097.5:n.342T>C (ADA)
ENST00000492931.5:n.752T>C (ADA)
ENST00000536532.5:c.668T>C (ADA)	ENSP00000440946.1:p.Val223Ala
ENST00000537820.1:c.607-87T>C (ADA)	ENSP00000441818.1:n.607-87T>C
ENST00000539235.5:c.*52T>C (ADA)	ENSP00000446464.1:n.*52T>C
NM_000022.2:c.668T>C , LRG_16t1:c.668T>C (ADA)	NP_000013.2:p.Val223Ala
XM_005260236.2:c.607-87T>C (ADA)	XP_005260293.1:n.607-87T>C
XM_011528478.1:c.263T>C (ADA)	XP_011526780.1:p.Val88Ala
XM_011528479.1:c.263T>C (ADA)	XP_011526781.1:p.Val88Ala
XR_244129.1:n.722T>C (ADA)
NM_000022.3:c.668T>C (ADA)	NP_000013.2:p.Val223Ala
NM_001322050.1:c.263T>C (ADA)	NP_001308979.1:p.Val88Ala
NM_001322051.1:c.607-87T>C (ADA)	NP_001308980.1:n.607-87T>C
NR_136160.1:n.819T>C (ADA)
NM_000022.4:c.668T>C (ADA) MANE Select	NP_000013.2:p.Val223Ala
NM_001322050.2:c.263T>C (ADA)	NP_001308979.1:p.Val88Ala
NM_001322051.2:c.607-87T>C (ADA)	NP_001308980.1:n.607-87T>C
NR_136160.2:n.760T>C (ADA)