Revel Score:
ENST00000372874 (MANE Select)
0.949
ENST00000537820
0.949
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041639 (AMR)
Genomes Max Group AF
0.00076149 (AMR)
Exomes Max Group AF
0.00022384 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621103G>T , CM000682.2:g.44621103G>T | GRCh38 |
| NC_000020.10:g.43249744G>T , CM000682.1:g.43249744G>T | GRCh37 |
| NC_000020.9:g.42683158G>T | NCBI36 |
| NG_007385.1:g.35633C>A , LRG_16:g.35633C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1057C>A (ADA) | ||
| ENST00000536076.2:c.737C>A (ADA) | ENSP00000512234.1:p.Pro246Gln | |
| ENST00000536532.6:c.*33C>A (ADA) | ENSP00000440946.1:n.*33C>A | |
| ENST00000537820.2:c.818C>A (ADA) | ENSP00000441818.1:p.Pro273Gln | |
| ENST00000539235.6:c.*274C>A (ADA) | ENSP00000446464.1:n.*274C>A | |
| ENST00000695889.1:c.365C>A (ADA) | ENSP00000512240.1:p.Pro122Gln | |
| ENST00000695890.1:n.4385C>A (ADA) | ||
| ENST00000695891.1:c.430C>A (ADA) | ENSP00000512241.1:p.Arg144Ser | |
| ENST00000695927.1:c.968C>A (ADA) | ENSP00000512270.1:p.Pro323Gln | |
| ENST00000695949.1:c.815C>A (ADA) | ENSP00000512281.1:p.Pro272Gln | |
| ENST00000695956.1:c.45C>A (ADA) | ||
| ENST00000695957.1:c.*381C>A (ADA) | ENSP00000512286.1:n.*381C>A | |
| ENST00000695991.1:c.428C>A (ADA) | ENSP00000512314.1:p.Pro143Gln | |
| ENST00000695992.1:c.*33C>A (ADA) | ENSP00000512315.1:n.*33C>A | |
| ENST00000695993.1:c.890C>A (ADA) | ENSP00000512316.1:p.Pro297Gln | |
| ENST00000695994.1:c.*33C>A (ADA) | ENSP00000512317.1:n.*33C>A | |
| ENST00000695995.1:c.500C>A (ADA) | ENSP00000512318.1:p.Pro167Gln | |
| ENST00000695996.1:n.972C>A (ADA) | ||
| ENST00000696003.1:n.2674C>A (ADA) | ||
| ENST00000696004.1:n.1058C>A (ADA) | ||
| ENST00000696005.1:c.340C>A (ADA) | ||
| ENST00000696006.1:c.*33C>A (ADA) | ENSP00000512325.1:n.*33C>A | |
| ENST00000696007.1:c.817C>A (ADA) | ENSP00000512326.1:n.817C>A | |
| ENST00000696008.1:n.3244C>A (ADA) | ||
| ENST00000696017.1:c.887C>A (ADA) | ENSP00000512333.1:p.Pro296Gln | |
| ENST00000696034.1:c.*33C>A (ADA) | ENSP00000512343.1:n.*33C>A | |
| ENST00000696035.1:n.1076C>A (ADA) | ||
| ENST00000696036.1:n.1591C>A (ADA) | ||
| ENST00000696037.1:n.2567C>A (ADA) | ||
| ENST00000696038.1:c.*647C>A (ADA) | ENSP00000512344.1:n.*647C>A | |
| ENST00000696039.1:n.1254C>A (ADA) | ||
| ENST00000696058.1:c.887C>A (ADA) | ENSP00000512361.1:p.Pro296Gln | |
| ENST00000696059.1:c.*835C>A (ADA) | ENSP00000512362.1:n.*835C>A | |
| ENST00000696060.1:c.959C>A (ADA) | ENSP00000512363.1:p.Pro320Gln | |
| ENST00000696061.1:c.887C>A (ADA) | ENSP00000512364.1:p.Pro296Gln | |
| ENST00000696062.1:c.953C>A (ADA) | ENSP00000512365.1:p.Pro318Gln | |
| ENST00000696063.1:c.965C>A (ADA) | ENSP00000512366.1:p.Pro322Gln | |
| ENST00000696064.1:c.737C>A (ADA) | ENSP00000512367.1:p.Pro246Gln | |
| ENST00000696065.1:c.212C>A (ADA) | ENSP00000512368.1:p.Pro71Gln | |
| ENST00000696072.1:n.245C>A (ADA) | ||
| ENST00000696073.1:n.1201C>A (ADA) | ||
| ENST00000696074.1:n.441C>A (ADA) | ||
| ENST00000696075.1:c.*860C>A (ADA) | ENSP00000512374.1:n.*860C>A | |
| ENST00000696076.1:c.959C>A (ADA) | ENSP00000512375.1:p.Pro320Gln | |
| ENST00000696077.1:c.884C>A (ADA) | ENSP00000512376.1:p.Pro295Gln | |
| ENST00000696078.1:c.887C>A (ADA) | ENSP00000512377.1:p.Pro296Gln | |
| ENST00000696079.1:c.887C>A (ADA) | ENSP00000512378.1:p.Pro296Gln | |
| ENST00000696080.1:c.890C>A (ADA) | ENSP00000512379.1:p.Pro297Gln | |
| ENST00000696081.1:n.1009C>A (ADA) | ||
| ENST00000696082.1:c.965C>A (ADA) | ENSP00000512380.1:p.Pro322Gln | |
| ENST00000696083.1:n.1847C>A (ADA) | ||
| ENST00000696084.1:n.1067C>A (ADA) | ||
| ENST00000696104.1:c.574C>A (ADA) | ENSP00000512399.1:p.Arg192Ser | |
| ENST00000372874.9:c.890C>A (ADA) MANE Select | ENSP00000361965.4:p.Pro297Gln | |
| ENST00000372874.8:c.890C>A (ADA) | ENSP00000361965.4:p.Pro297Gln | |
| ENST00000372887.5:c.152-2830G>T (PKIG) | ENSP00000361978.1:n.152-2830G>T | |
| ENST00000464097.5:n.640C>A (ADA) | ||
| ENST00000492931.5:n.1050C>A (ADA) | ||
| ENST00000536532.5:c.*33C>A (ADA) | ENSP00000440946.1:n.*33C>A | |
| ENST00000537820.1:c.818C>A (ADA) | ENSP00000441818.1:p.Pro273Gln | |
| ENST00000539235.5:c.*274C>A (ADA) | ENSP00000446464.1:n.*274C>A | |
| NM_000022.2:c.890C>A , LRG_16t1:c.890C>A (ADA) | NP_000013.2:p.Pro297Gln | |
| XM_005260236.2:c.818C>A (ADA) | XP_005260293.1:p.Pro273Gln | |
| XM_011528478.1:c.485C>A (ADA) | XP_011526780.1:p.Pro162Gln | |
| XM_011528479.1:c.485C>A (ADA) | XP_011526781.1:p.Pro162Gln | |
| XR_244129.1:n.879C>A (ADA) | ||
| NM_000022.3:c.890C>A (ADA) | NP_000013.2:p.Pro297Gln | |
| NM_001322050.1:c.485C>A (ADA) | NP_001308979.1:p.Pro162Gln | |
| NM_001322051.1:c.818C>A (ADA) | NP_001308980.1:p.Pro273Gln | |
| NR_136160.1:n.976C>A (ADA) | ||
| NM_000022.4:c.890C>A (ADA) MANE Select | NP_000013.2:p.Pro297Gln | |
| NM_001322050.2:c.485C>A (ADA) | NP_001308979.1:p.Pro162Gln | |
| NM_001322051.2:c.818C>A (ADA) | NP_001308980.1:p.Pro273Gln | |
| NR_136160.2:n.917C>A (ADA) |