Canonical Allele Identifier: CA409121090

Gene: ADA

Linked Data

• gnomAD v4: 20-44625604-G-T
• MyVariant Identifiers: chr20:g.43254245G>T (hg19) ; chr20:g.44625604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625604G>T , CM000682.2:g.44625604G>T	GRCh38
NC_000020.10:g.43254245G>T , CM000682.1:g.43254245G>T	GRCh37
NC_000020.9:g.42687659G>T	NCBI36
NG_007385.1:g.31132C>A , LRG_16:g.31132C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.534C>A
ENST00000536076.2:c.290C>A	ENSP00000512234.1:p.Ala97Asp
ENST00000536532.6:c.443C>A	ENSP00000440946.1:p.Ala148Asp
ENST00000537820.2:c.443C>A	ENSP00000441818.1:p.Ala148Asp
ENST00000539235.6:c.219-2526C>A	ENSP00000446464.1:n.219-2526C>A
ENST00000695889.1:c.219-2674C>A	ENSP00000512240.1:n.219-2674C>A
ENST00000695890.1:n.2246C>A
ENST00000695891.1:c.219-2674C>A	ENSP00000512241.1:n.219-2674C>A
ENST00000695927.1:c.521C>A	ENSP00000512270.1:p.Ala174Asp
ENST00000695949.1:c.440C>A	ENSP00000512281.1:p.Ala147Asp
ENST00000695957.1:c.362+852C>A	ENSP00000512286.1:n.362+852C>A
ENST00000695991.1:c.217-2674C>A	ENSP00000512314.1:n.217-2674C>A
ENST00000695992.1:c.443C>A	ENSP00000512315.1:p.Ala148Asp
ENST00000695993.1:c.443C>A	ENSP00000512316.1:p.Ala148Asp
ENST00000695994.1:c.443C>A	ENSP00000512317.1:p.Ala148Asp
ENST00000695995.1:c.217-2526C>A	ENSP00000512318.1:n.217-2526C>A
ENST00000695996.1:n.514C>A
ENST00000695997.1:n.433+852C>A
ENST00000696003.1:n.535C>A
ENST00000696004.1:n.535C>A
ENST00000696006.1:c.443C>A	ENSP00000512325.1:p.Ala148Asp
ENST00000696007.1:c.329+852C>A	ENSP00000512326.1:n.329+852C>A
ENST00000696008.1:n.359C>A
ENST00000696009.1:n.554C>A
ENST00000696017.1:c.440C>A	ENSP00000512333.1:p.Ala147Asp
ENST00000696034.1:c.443C>A	ENSP00000512343.1:p.Ala148Asp
ENST00000696035.1:n.553C>A
ENST00000696036.1:n.1133C>A
ENST00000696037.1:n.2120C>A
ENST00000696038.1:c.*189C>A	ENSP00000512344.1:n.*189C>A
ENST00000696039.1:n.731C>A
ENST00000696058.1:c.443C>A	ENSP00000512361.1:p.Ala148Asp
ENST00000696059.1:c.*388C>A	ENSP00000512362.1:n.*388C>A
ENST00000696060.1:c.443C>A	ENSP00000512363.1:p.Ala148Asp
ENST00000696061.1:c.440C>A	ENSP00000512364.1:p.Ala147Asp
ENST00000696062.1:c.506C>A	ENSP00000512365.1:p.Ala169Asp
ENST00000696063.1:c.518C>A	ENSP00000512366.1:p.Ala173Asp
ENST00000696064.1:c.290C>A	ENSP00000512367.1:p.Ala97Asp
ENST00000696065.1:c.66-2674C>A	ENSP00000512368.1:n.66-2674C>A
ENST00000696075.1:c.*413C>A	ENSP00000512374.1:n.*413C>A
ENST00000696076.1:c.443C>A	ENSP00000512375.1:p.Ala148Asp
ENST00000696077.1:c.440C>A	ENSP00000512376.1:p.Ala147Asp
ENST00000696078.1:c.443C>A	ENSP00000512377.1:p.Ala148Asp
ENST00000696079.1:c.443C>A	ENSP00000512378.1:p.Ala148Asp
ENST00000696080.1:c.443C>A	ENSP00000512379.1:p.Ala148Asp
ENST00000696082.1:c.521C>A	ENSP00000512380.1:p.Ala174Asp
ENST00000696083.1:n.85C>A
ENST00000696084.1:n.544C>A
ENST00000696104.1:c.362+852C>A	ENSP00000512399.1:n.362+852C>A
ENST00000696105.1:c.443C>A	ENSP00000512400.1:p.Ala148Asp
ENST00000372874.9:c.443C>A MANE Select	ENSP00000361965.4:p.Ala148Asp
ENST00000372874.8:c.443C>A	ENSP00000361965.4:p.Ala148Asp
ENST00000464097.5:n.117C>A
ENST00000492931.5:n.527C>A
ENST00000536532.5:c.443C>A	ENSP00000440946.1:p.Ala148Asp
ENST00000537820.1:c.443C>A	ENSP00000441818.1:p.Ala148Asp
ENST00000539235.5:c.219-2526C>A	ENSP00000446464.1:n.219-2526C>A
NM_000022.2:c.443C>A , LRG_16t1:c.443C>A	NP_000013.2:p.Ala148Asp
XM_005260236.2:c.443C>A	XP_005260293.1:p.Ala148Asp
XM_011528478.1:c.73+852C>A	XP_011526780.1:n.73+852C>A
XM_011528479.1:c.73+852C>A	XP_011526781.1:n.73+852C>A
XR_244129.1:n.497C>A
NM_000022.3:c.443C>A	NP_000013.2:p.Ala148Asp
NM_001322050.1:c.73+852C>A	NP_001308979.1:n.73+852C>A
NM_001322051.1:c.443C>A	NP_001308980.1:p.Ala148Asp
NR_136160.1:n.594C>A
NM_000022.4:c.443C>A MANE Select	NP_000013.2:p.Ala148Asp
NM_001322050.2:c.73+852C>A	NP_001308979.1:n.73+852C>A
NM_001322051.2:c.443C>A	NP_001308980.1:p.Ala148Asp
NR_136160.2:n.535C>A