Canonical Allele Identifier: CA409121223
Community Standard Title: NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44625670G>T , CM000682.2:g.44625670G>T GRCh38
NC_000020.10:g.43254311G>T , CM000682.1:g.43254311G>T GRCh37
NC_000020.9:g.42687725G>T NCBI36
NG_007385.1:g.31066C>A , LRG_16:g.31066C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.377C>A MANE Select NP_000013.2:p.Pro126Gln
ENST00000372874.9:c.377C>A MANE Select ENSP00000361965.4:p.Pro126Gln
NM_000022.2:c.377C>A , LRG_16t1:c.377C>A NP_000013.2:p.Pro126Gln
NM_000022.3:c.377C>A NP_000013.2:p.Pro126Gln
NM_001322050.1:c.73+786C>A NP_001308979.1:n.73+786C>A
NM_001322050.2:c.73+786C>A NP_001308979.1:n.73+786C>A
NM_001322051.1:c.377C>A NP_001308980.1:p.Pro126Gln
NM_001322051.2:c.377C>A NP_001308980.1:p.Pro126Gln
NR_136160.1:n.528C>A
NR_136160.2:n.469C>A
ENST00000372874.8:c.377C>A ENSP00000361965.4:p.Pro126Gln
ENST00000464097.5:n.51C>A
ENST00000492931.5:n.461C>A
ENST00000492931.6:n.468C>A
ENST00000536076.2:c.224C>A ENSP00000512234.1:p.Pro75Gln
ENST00000536532.5:c.377C>A ENSP00000440946.1:p.Pro126Gln
ENST00000536532.6:c.377C>A ENSP00000440946.1:p.Pro126Gln
ENST00000537820.1:c.377C>A ENSP00000441818.1:p.Pro126Gln
ENST00000537820.2:c.377C>A ENSP00000441818.1:p.Pro126Gln
ENST00000539235.5:c.219-2592C>A ENSP00000446464.1:n.219-2592C>A
ENST00000539235.6:c.219-2592C>A ENSP00000446464.1:n.219-2592C>A
ENST00000695889.1:c.219-2740C>A ENSP00000512240.1:n.219-2740C>A
ENST00000695890.1:n.2180C>A
ENST00000695891.1:c.219-2740C>A ENSP00000512241.1:n.219-2740C>A
ENST00000695927.1:c.455C>A ENSP00000512270.1:p.Pro152Gln
ENST00000695949.1:c.374C>A ENSP00000512281.1:p.Pro125Gln
ENST00000695957.1:c.362+786C>A ENSP00000512286.1:n.362+786C>A
ENST00000695991.1:c.217-2740C>A ENSP00000512314.1:n.217-2740C>A
ENST00000695992.1:c.377C>A ENSP00000512315.1:p.Pro126Gln
ENST00000695993.1:c.377C>A ENSP00000512316.1:p.Pro126Gln
ENST00000695994.1:c.377C>A ENSP00000512317.1:p.Pro126Gln
ENST00000695995.1:c.217-2592C>A ENSP00000512318.1:n.217-2592C>A
ENST00000695996.1:n.448C>A
ENST00000695997.1:n.433+786C>A
ENST00000696003.1:n.469C>A
ENST00000696004.1:n.469C>A
ENST00000696006.1:c.377C>A ENSP00000512325.1:p.Pro126Gln
ENST00000696007.1:c.329+786C>A ENSP00000512326.1:n.329+786C>A
ENST00000696008.1:n.293C>A
ENST00000696009.1:n.488C>A
ENST00000696017.1:c.374C>A ENSP00000512333.1:p.Pro125Gln
ENST00000696034.1:c.377C>A ENSP00000512343.1:p.Pro126Gln
ENST00000696035.1:n.487C>A
ENST00000696036.1:n.1067C>A
ENST00000696037.1:n.2054C>A
ENST00000696038.1:c.*123C>A ENSP00000512344.1:n.*123C>A
ENST00000696039.1:n.665C>A
ENST00000696058.1:c.377C>A ENSP00000512361.1:p.Pro126Gln
ENST00000696059.1:c.*322C>A ENSP00000512362.1:n.*322C>A
ENST00000696060.1:c.377C>A ENSP00000512363.1:p.Pro126Gln
ENST00000696061.1:c.374C>A ENSP00000512364.1:p.Pro125Gln
ENST00000696062.1:c.440C>A ENSP00000512365.1:p.Pro147Gln
ENST00000696063.1:c.452C>A ENSP00000512366.1:p.Pro151Gln
ENST00000696064.1:c.224C>A ENSP00000512367.1:p.Pro75Gln
ENST00000696065.1:c.66-2740C>A ENSP00000512368.1:n.66-2740C>A
ENST00000696075.1:c.*347C>A ENSP00000512374.1:n.*347C>A
ENST00000696076.1:c.377C>A ENSP00000512375.1:p.Pro126Gln
ENST00000696077.1:c.374C>A ENSP00000512376.1:p.Pro125Gln
ENST00000696078.1:c.377C>A ENSP00000512377.1:p.Pro126Gln
ENST00000696079.1:c.377C>A ENSP00000512378.1:p.Pro126Gln
ENST00000696080.1:c.377C>A ENSP00000512379.1:p.Pro126Gln
ENST00000696082.1:c.455C>A ENSP00000512380.1:p.Pro152Gln
ENST00000696083.1:n.19C>A
ENST00000696084.1:n.478C>A
ENST00000696104.1:c.362+786C>A ENSP00000512399.1:n.362+786C>A
ENST00000696105.1:c.377C>A ENSP00000512400.1:p.Pro126Gln
XM_005260236.2:c.377C>A XP_005260293.1:p.Pro126Gln
XM_011528478.1:c.73+786C>A XP_011526780.1:n.73+786C>A
XM_011528479.1:c.73+786C>A XP_011526781.1:n.73+786C>A
XR_244129.1:n.431C>A