Canonical Allele Identifier: CA409120397

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44623018-C-T
• MyVariant Identifiers: chr20:g.43251659C>T (hg19) ; chr20:g.44623018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623018C>T , CM000682.2:g.44623018C>T	GRCh38
NC_000020.10:g.43251659C>T , CM000682.1:g.43251659C>T	GRCh37
NC_000020.9:g.42685073C>T	NCBI36
NG_007385.1:g.33718G>A , LRG_16:g.33718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.758G>A (ADA)
ENST00000536076.2:c.514G>A (ADA)	ENSP00000512234.1:p.Val172Ile
ENST00000536532.6:c.667G>A (ADA)	ENSP00000440946.1:p.Val223Ile
ENST00000537820.2:c.607-88G>A (ADA)	ENSP00000441818.1:n.607-88G>A
ENST00000539235.6:c.*51G>A (ADA)	ENSP00000446464.1:n.*51G>A
ENST00000695889.1:c.219-88G>A (ADA)	ENSP00000512240.1:n.219-88G>A
ENST00000695890.1:n.2470G>A (ADA)
ENST00000695891.1:c.219-88G>A (ADA)	ENSP00000512241.1:n.219-88G>A
ENST00000695927.1:c.745G>A (ADA)	ENSP00000512270.1:p.Val249Ile
ENST00000695949.1:c.604-88G>A (ADA)	ENSP00000512281.1:n.604-88G>A
ENST00000695957.1:c.*158G>A (ADA)	ENSP00000512286.1:n.*158G>A
ENST00000695991.1:c.217-88G>A (ADA)	ENSP00000512314.1:n.217-88G>A
ENST00000695992.1:c.667G>A (ADA)	ENSP00000512315.1:p.Val223Ile
ENST00000695993.1:c.667G>A (ADA)	ENSP00000512316.1:p.Val223Ile
ENST00000695994.1:c.651+16G>A (ADA)	ENSP00000512317.1:n.651+16G>A
ENST00000695995.1:c.277G>A (ADA)	ENSP00000512318.1:p.Val93Ile
ENST00000695996.1:n.738G>A (ADA)
ENST00000696003.1:n.759G>A (ADA)
ENST00000696004.1:n.759G>A (ADA)
ENST00000696005.1:c.129-88G>A (ADA)
ENST00000696006.1:c.607-88G>A (ADA)	ENSP00000512325.1:n.607-88G>A
ENST00000696007.1:c.518G>A (ADA)	ENSP00000512326.1:n.518G>A
ENST00000696008.1:n.2945G>A (ADA)
ENST00000696017.1:c.664G>A (ADA)	ENSP00000512333.1:p.Val222Ile
ENST00000696034.1:c.667G>A (ADA)	ENSP00000512343.1:p.Val223Ile
ENST00000696035.1:n.777G>A (ADA)
ENST00000696036.1:n.1357G>A (ADA)
ENST00000696037.1:n.2344G>A (ADA)
ENST00000696038.1:c.*413G>A (ADA)	ENSP00000512344.1:n.*413G>A
ENST00000696039.1:n.955G>A (ADA)
ENST00000696058.1:c.664G>A (ADA)	ENSP00000512361.1:p.Val222Ile
ENST00000696059.1:c.*612G>A (ADA)	ENSP00000512362.1:n.*612G>A
ENST00000696060.1:c.736G>A (ADA)	ENSP00000512363.1:p.Val246Ile
ENST00000696061.1:c.664G>A (ADA)	ENSP00000512364.1:p.Val222Ile
ENST00000696062.1:c.730G>A (ADA)	ENSP00000512365.1:p.Val244Ile
ENST00000696063.1:c.742G>A (ADA)	ENSP00000512366.1:p.Val248Ile
ENST00000696064.1:c.514G>A (ADA)	ENSP00000512367.1:p.Val172Ile
ENST00000696065.1:c.66-88G>A (ADA)	ENSP00000512368.1:n.66-88G>A
ENST00000696073.1:n.902G>A (ADA)
ENST00000696074.1:n.283G>A (ADA)
ENST00000696075.1:c.*637G>A (ADA)	ENSP00000512374.1:n.*637G>A
ENST00000696076.1:c.736G>A (ADA)	ENSP00000512375.1:p.Val246Ile
ENST00000696077.1:c.661G>A (ADA)	ENSP00000512376.1:p.Val221Ile
ENST00000696078.1:c.664G>A (ADA)	ENSP00000512377.1:p.Val222Ile
ENST00000696079.1:c.664G>A (ADA)	ENSP00000512378.1:p.Val222Ile
ENST00000696080.1:c.667G>A (ADA)	ENSP00000512379.1:p.Val223Ile
ENST00000696081.1:n.786G>A (ADA)
ENST00000696082.1:c.742G>A (ADA)	ENSP00000512380.1:p.Val248Ile
ENST00000696083.1:n.1548G>A (ADA)
ENST00000696084.1:n.768G>A (ADA)
ENST00000696104.1:c.363-88G>A (ADA)	ENSP00000512399.1:n.363-88G>A
ENST00000696105.1:c.*208G>A (ADA)	ENSP00000512400.1:n.*208G>A
ENST00000372874.9:c.667G>A (ADA) MANE Select	ENSP00000361965.4:p.Val223Ile
ENST00000372874.8:c.667G>A (ADA)	ENSP00000361965.4:p.Val223Ile
ENST00000372887.5:c.152-915C>T (PKIG)	ENSP00000361978.1:n.152-915C>T
ENST00000464097.5:n.341G>A (ADA)
ENST00000492931.5:n.751G>A (ADA)
ENST00000536532.5:c.667G>A (ADA)	ENSP00000440946.1:p.Val223Ile
ENST00000537820.1:c.607-88G>A (ADA)	ENSP00000441818.1:n.607-88G>A
ENST00000539235.5:c.*51G>A (ADA)	ENSP00000446464.1:n.*51G>A
NM_000022.2:c.667G>A , LRG_16t1:c.667G>A (ADA)	NP_000013.2:p.Val223Ile
XM_005260236.2:c.607-88G>A (ADA)	XP_005260293.1:n.607-88G>A
XM_011528478.1:c.262G>A (ADA)	XP_011526780.1:p.Val88Ile
XM_011528479.1:c.262G>A (ADA)	XP_011526781.1:p.Val88Ile
XR_244129.1:n.721G>A (ADA)
NM_000022.3:c.667G>A (ADA)	NP_000013.2:p.Val223Ile
NM_001322050.1:c.262G>A (ADA)	NP_001308979.1:p.Val88Ile
NM_001322051.1:c.607-88G>A (ADA)	NP_001308980.1:n.607-88G>A
NR_136160.1:n.818G>A (ADA)
NM_000022.4:c.667G>A (ADA) MANE Select	NP_000013.2:p.Val223Ile
NM_001322050.2:c.262G>A (ADA)	NP_001308979.1:p.Val88Ile
NM_001322051.2:c.607-88G>A (ADA)	NP_001308980.1:n.607-88G>A
NR_136160.2:n.759G>A (ADA)