UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622899C>A , CM000682.2:g.44622899C>A | GRCh38 |
| NC_000020.10:g.43251540C>A , CM000682.1:g.43251540C>A | GRCh37 |
| NC_000020.9:g.42684954C>A | NCBI36 |
| NG_007385.1:g.33837G>T , LRG_16:g.33837G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.877G>T (ADA) | ||
| ENST00000536076.2:c.557G>T (ADA) | ENSP00000512234.1:p.Gly186Val | |
| ENST00000536532.6:c.710G>T (ADA) | ENSP00000440946.1:p.Gly237Val | |
| ENST00000537820.2:c.638G>T (ADA) | ENSP00000441818.1:p.Gly213Val | |
| ENST00000539235.6:c.*94G>T (ADA) | ENSP00000446464.1:n.*94G>T | |
| ENST00000695889.1:c.250G>T (ADA) | ENSP00000512240.1:p.Asp84Tyr | |
| ENST00000695890.1:n.2589G>T (ADA) | ||
| ENST00000695891.1:c.250G>T (ADA) | ENSP00000512241.1:p.Asp84Tyr | |
| ENST00000695927.1:c.788G>T (ADA) | ENSP00000512270.1:p.Gly263Val | |
| ENST00000695949.1:c.635G>T (ADA) | ENSP00000512281.1:p.Gly212Val | |
| ENST00000695957.1:c.*201G>T (ADA) | ENSP00000512286.1:n.*201G>T | |
| ENST00000695991.1:c.248G>T (ADA) | ENSP00000512314.1:p.Gly83Val | |
| ENST00000695992.1:c.710G>T (ADA) | ENSP00000512315.1:p.Gly237Val | |
| ENST00000695993.1:c.710G>T (ADA) | ENSP00000512316.1:p.Gly237Val | |
| ENST00000695994.1:c.683G>T (ADA) | ENSP00000512317.1:p.Gly228Val | |
| ENST00000695995.1:c.320G>T (ADA) | ENSP00000512318.1:p.Gly107Val | |
| ENST00000695996.1:n.857G>T (ADA) | ||
| ENST00000696003.1:n.878G>T (ADA) | ||
| ENST00000696004.1:n.878G>T (ADA) | ||
| ENST00000696005.1:c.160G>T (ADA) | ||
| ENST00000696006.1:c.638G>T (ADA) | ENSP00000512325.1:p.Gly213Val | |
| ENST00000696007.1:c.637G>T (ADA) | ENSP00000512326.1:n.637G>T | |
| ENST00000696008.1:n.3064G>T (ADA) | ||
| ENST00000696017.1:c.707G>T (ADA) | ENSP00000512333.1:p.Gly236Val | |
| ENST00000696034.1:c.710G>T (ADA) | ENSP00000512343.1:p.Gly237Val | |
| ENST00000696035.1:n.896G>T (ADA) | ||
| ENST00000696036.1:n.1476G>T (ADA) | ||
| ENST00000696037.1:n.2387G>T (ADA) | ||
| ENST00000696038.1:c.*532G>T (ADA) | ENSP00000512344.1:n.*532G>T | |
| ENST00000696039.1:n.1074G>T (ADA) | ||
| ENST00000696058.1:c.707G>T (ADA) | ENSP00000512361.1:p.Gly236Val | |
| ENST00000696059.1:c.*655G>T (ADA) | ENSP00000512362.1:n.*655G>T | |
| ENST00000696060.1:c.779G>T (ADA) | ENSP00000512363.1:p.Gly260Val | |
| ENST00000696061.1:c.707G>T (ADA) | ENSP00000512364.1:p.Gly236Val | |
| ENST00000696062.1:c.773G>T (ADA) | ENSP00000512365.1:p.Gly258Val | |
| ENST00000696063.1:c.785G>T (ADA) | ENSP00000512366.1:p.Gly262Val | |
| ENST00000696064.1:c.557G>T (ADA) | ENSP00000512367.1:p.Gly186Val | |
| ENST00000696065.1:c.97G>T (ADA) | ENSP00000512368.1:p.Asp33Tyr | |
| ENST00000696073.1:n.1021G>T (ADA) | ||
| ENST00000696074.1:n.326G>T (ADA) | ||
| ENST00000696075.1:c.*680G>T (ADA) | ENSP00000512374.1:n.*680G>T | |
| ENST00000696076.1:c.779G>T (ADA) | ENSP00000512375.1:p.Gly260Val | |
| ENST00000696077.1:c.704G>T (ADA) | ENSP00000512376.1:p.Gly235Val | |
| ENST00000696078.1:c.707G>T (ADA) | ENSP00000512377.1:p.Gly236Val | |
| ENST00000696079.1:c.707G>T (ADA) | ENSP00000512378.1:p.Gly236Val | |
| ENST00000696080.1:c.710G>T (ADA) | ENSP00000512379.1:p.Gly237Val | |
| ENST00000696081.1:n.829G>T (ADA) | ||
| ENST00000696082.1:c.785G>T (ADA) | ENSP00000512380.1:p.Gly262Val | |
| ENST00000696083.1:n.1667G>T (ADA) | ||
| ENST00000696084.1:n.887G>T (ADA) | ||
| ENST00000696104.1:c.394G>T (ADA) | ENSP00000512399.1:p.Asp132Tyr | |
| ENST00000372874.9:c.710G>T (ADA) MANE Select | ENSP00000361965.4:p.Gly237Val | |
| ENST00000372874.8:c.710G>T (ADA) | ENSP00000361965.4:p.Gly237Val | |
| ENST00000372887.5:c.152-1034C>A (PKIG) | ENSP00000361978.1:n.152-1034C>A | |
| ENST00000464097.5:n.460G>T (ADA) | ||
| ENST00000492931.5:n.870G>T (ADA) | ||
| ENST00000536532.5:c.710G>T (ADA) | ENSP00000440946.1:p.Gly237Val | |
| ENST00000537820.1:c.638G>T (ADA) | ENSP00000441818.1:p.Gly213Val | |
| ENST00000539235.5:c.*94G>T (ADA) | ENSP00000446464.1:n.*94G>T | |
| NM_000022.2:c.710G>T , LRG_16t1:c.710G>T (ADA) | NP_000013.2:p.Gly237Val | |
| XM_005260236.2:c.638G>T (ADA) | XP_005260293.1:p.Gly213Val | |
| XM_011528478.1:c.305G>T (ADA) | XP_011526780.1:p.Gly102Val | |
| XM_011528479.1:c.305G>T (ADA) | XP_011526781.1:p.Gly102Val | |
| XR_244129.1:n.764G>T (ADA) | ||
| NM_000022.3:c.710G>T (ADA) | NP_000013.2:p.Gly237Val | |
| NM_001322050.1:c.305G>T (ADA) | NP_001308979.1:p.Gly102Val | |
| NM_001322051.1:c.638G>T (ADA) | NP_001308980.1:p.Gly213Val | |
| NR_136160.1:n.861G>T (ADA) | ||
| NM_000022.4:c.710G>T (ADA) MANE Select | NP_000013.2:p.Gly237Val | |
| NM_001322050.2:c.305G>T (ADA) | NP_001308979.1:p.Gly102Val | |
| NM_001322051.2:c.638G>T (ADA) | NP_001308980.1:p.Gly213Val | |
| NR_136160.2:n.802G>T (ADA) |