Canonical Allele Identifier: CA409120873

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43252909A>C (hg19) ; chr20:g.44624268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624268A>C , CM000682.2:g.44624268A>C	GRCh38
NC_000020.10:g.43252909A>C , CM000682.1:g.43252909A>C	GRCh37
NC_000020.9:g.42686323A>C	NCBI36
NG_007385.1:g.32468T>G , LRG_16:g.32468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.631T>G
ENST00000536076.2:c.387T>G	ENSP00000512234.1:p.Ile129Met
ENST00000536532.6:c.540T>G	ENSP00000440946.1:p.Ile180Met
ENST00000537820.2:c.540T>G	ENSP00000441818.1:p.Ile180Met
ENST00000539235.6:c.219-1190T>G	ENSP00000446464.1:n.219-1190T>G
ENST00000695889.1:c.219-1338T>G	ENSP00000512240.1:n.219-1338T>G
ENST00000695890.1:n.2343T>G
ENST00000695891.1:c.219-1338T>G	ENSP00000512241.1:n.219-1338T>G
ENST00000695927.1:c.618T>G	ENSP00000512270.1:p.Ile206Met
ENST00000695949.1:c.537T>G	ENSP00000512281.1:p.Ile179Met
ENST00000695957.1:c.*31T>G	ENSP00000512286.1:n.*31T>G
ENST00000695991.1:c.217-1338T>G	ENSP00000512314.1:n.217-1338T>G
ENST00000695992.1:c.540T>G	ENSP00000512315.1:p.Ile180Met
ENST00000695993.1:c.540T>G	ENSP00000512316.1:p.Ile180Met
ENST00000695994.1:c.540T>G	ENSP00000512317.1:p.Ile180Met
ENST00000695995.1:c.217-1190T>G	ENSP00000512318.1:n.217-1190T>G
ENST00000695996.1:n.611T>G
ENST00000695997.1:n.495T>G
ENST00000696003.1:n.632T>G
ENST00000696004.1:n.632T>G
ENST00000696005.1:c.62T>G
ENST00000696006.1:c.540T>G	ENSP00000512325.1:p.Ile180Met
ENST00000696007.1:c.391T>G	ENSP00000512326.1:n.391T>G
ENST00000696008.1:n.1695T>G
ENST00000696009.1:n.1890T>G
ENST00000696017.1:c.537T>G	ENSP00000512333.1:p.Ile179Met
ENST00000696034.1:c.540T>G	ENSP00000512343.1:p.Ile180Met
ENST00000696035.1:n.650T>G
ENST00000696036.1:n.1230T>G
ENST00000696037.1:n.2217T>G
ENST00000696038.1:c.*286T>G	ENSP00000512344.1:n.*286T>G
ENST00000696039.1:n.828T>G
ENST00000696058.1:c.540T>G	ENSP00000512361.1:p.Ile180Met
ENST00000696059.1:c.*485T>G	ENSP00000512362.1:n.*485T>G
ENST00000696060.1:c.540T>G	ENSP00000512363.1:p.Ile180Met
ENST00000696061.1:c.537T>G	ENSP00000512364.1:p.Ile179Met
ENST00000696062.1:c.603T>G	ENSP00000512365.1:p.Ile201Met
ENST00000696063.1:c.615T>G	ENSP00000512366.1:p.Ile205Met
ENST00000696064.1:c.387T>G	ENSP00000512367.1:p.Ile129Met
ENST00000696065.1:c.66-1338T>G	ENSP00000512368.1:n.66-1338T>G
ENST00000696074.1:n.156T>G
ENST00000696075.1:c.*510T>G	ENSP00000512374.1:n.*510T>G
ENST00000696076.1:c.540T>G	ENSP00000512375.1:p.Ile180Met
ENST00000696077.1:c.537T>G	ENSP00000512376.1:p.Ile179Met
ENST00000696078.1:c.540T>G	ENSP00000512377.1:p.Ile180Met
ENST00000696079.1:c.540T>G	ENSP00000512378.1:p.Ile180Met
ENST00000696080.1:c.540T>G	ENSP00000512379.1:p.Ile180Met
ENST00000696081.1:n.659T>G
ENST00000696082.1:c.618T>G	ENSP00000512380.1:p.Ile206Met
ENST00000696083.1:n.1421T>G
ENST00000696084.1:n.641T>G
ENST00000696104.1:c.363-1338T>G	ENSP00000512399.1:n.363-1338T>G
ENST00000696105.1:c.*81T>G	ENSP00000512400.1:n.*81T>G
ENST00000372874.9:c.540T>G MANE Select	ENSP00000361965.4:p.Ile180Met
ENST00000372874.8:c.540T>G	ENSP00000361965.4:p.Ile180Met
ENST00000464097.5:n.214T>G
ENST00000492931.5:n.624T>G
ENST00000536532.5:c.540T>G	ENSP00000440946.1:p.Ile180Met
ENST00000537820.1:c.540T>G	ENSP00000441818.1:p.Ile180Met
ENST00000539235.5:c.219-1190T>G	ENSP00000446464.1:n.219-1190T>G
NM_000022.2:c.540T>G , LRG_16t1:c.540T>G	NP_000013.2:p.Ile180Met
XM_005260236.2:c.540T>G	XP_005260293.1:p.Ile180Met
XM_011528478.1:c.135T>G	XP_011526780.1:p.Ile45Met
XM_011528479.1:c.135T>G	XP_011526781.1:p.Ile45Met
XR_244129.1:n.594T>G
NM_000022.3:c.540T>G	NP_000013.2:p.Ile180Met
NM_001322050.1:c.135T>G	NP_001308979.1:p.Ile45Met
NM_001322051.1:c.540T>G	NP_001308980.1:p.Ile180Met
NR_136160.1:n.691T>G
NM_000022.4:c.540T>G MANE Select	NP_000013.2:p.Ile180Met
NM_001322050.2:c.135T>G	NP_001308979.1:p.Ile45Met
NM_001322051.2:c.540T>G	NP_001308980.1:p.Ile180Met
NR_136160.2:n.632T>G