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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622898T>C , CM000682.2:g.44622898T>C | GRCh38 |
| NC_000020.10:g.43251539T>C , CM000682.1:g.43251539T>C | GRCh37 |
| NC_000020.9:g.42684953T>C | NCBI36 |
| NG_007385.1:g.33838A>G , LRG_16:g.33838A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.878A>G (ADA) | ||
| ENST00000536076.2:c.558A>G (ADA) | ENSP00000512234.1:p.Gly186= | |
| ENST00000536532.6:c.711A>G (ADA) | ENSP00000440946.1:p.Gly237= | |
| ENST00000537820.2:c.639A>G (ADA) | ENSP00000441818.1:p.Gly213= | |
| ENST00000539235.6:c.*95A>G (ADA) | ENSP00000446464.1:n.*95A>G | |
| ENST00000695889.1:c.251A>G (ADA) | ENSP00000512240.1:p.Asp84Gly | |
| ENST00000695890.1:n.2590A>G (ADA) | ||
| ENST00000695891.1:c.251A>G (ADA) | ENSP00000512241.1:p.Asp84Gly | |
| ENST00000695927.1:c.789A>G (ADA) | ENSP00000512270.1:p.Gly263= | |
| ENST00000695949.1:c.636A>G (ADA) | ENSP00000512281.1:p.Gly212= | |
| ENST00000695957.1:c.*202A>G (ADA) | ENSP00000512286.1:n.*202A>G | |
| ENST00000695991.1:c.249A>G (ADA) | ENSP00000512314.1:p.Gly83= | |
| ENST00000695992.1:c.711A>G (ADA) | ENSP00000512315.1:p.Gly237= | |
| ENST00000695993.1:c.711A>G (ADA) | ENSP00000512316.1:p.Gly237= | |
| ENST00000695994.1:c.684A>G (ADA) | ENSP00000512317.1:p.Gly228= | |
| ENST00000695995.1:c.321A>G (ADA) | ENSP00000512318.1:p.Gly107= | |
| ENST00000695996.1:n.858A>G (ADA) | ||
| ENST00000696003.1:n.879A>G (ADA) | ||
| ENST00000696004.1:n.879A>G (ADA) | ||
| ENST00000696005.1:c.161A>G (ADA) | ||
| ENST00000696006.1:c.639A>G (ADA) | ENSP00000512325.1:p.Gly213= | |
| ENST00000696007.1:c.638A>G (ADA) | ENSP00000512326.1:n.638A>G | |
| ENST00000696008.1:n.3065A>G (ADA) | ||
| ENST00000696017.1:c.708A>G (ADA) | ENSP00000512333.1:p.Gly236= | |
| ENST00000696034.1:c.711A>G (ADA) | ENSP00000512343.1:p.Gly237= | |
| ENST00000696035.1:n.897A>G (ADA) | ||
| ENST00000696036.1:n.1477A>G (ADA) | ||
| ENST00000696037.1:n.2388A>G (ADA) | ||
| ENST00000696038.1:c.*533A>G (ADA) | ENSP00000512344.1:n.*533A>G | |
| ENST00000696039.1:n.1075A>G (ADA) | ||
| ENST00000696058.1:c.708A>G (ADA) | ENSP00000512361.1:p.Gly236= | |
| ENST00000696059.1:c.*656A>G (ADA) | ENSP00000512362.1:n.*656A>G | |
| ENST00000696060.1:c.780A>G (ADA) | ENSP00000512363.1:p.Gly260= | |
| ENST00000696061.1:c.708A>G (ADA) | ENSP00000512364.1:p.Gly236= | |
| ENST00000696062.1:c.774A>G (ADA) | ENSP00000512365.1:p.Gly258= | |
| ENST00000696063.1:c.786A>G (ADA) | ENSP00000512366.1:p.Gly262= | |
| ENST00000696064.1:c.558A>G (ADA) | ENSP00000512367.1:p.Gly186= | |
| ENST00000696065.1:c.98A>G (ADA) | ENSP00000512368.1:p.Asp33Gly | |
| ENST00000696073.1:n.1022A>G (ADA) | ||
| ENST00000696074.1:n.327A>G (ADA) | ||
| ENST00000696075.1:c.*681A>G (ADA) | ENSP00000512374.1:n.*681A>G | |
| ENST00000696076.1:c.780A>G (ADA) | ENSP00000512375.1:p.Gly260= | |
| ENST00000696077.1:c.705A>G (ADA) | ENSP00000512376.1:p.Gly235= | |
| ENST00000696078.1:c.708A>G (ADA) | ENSP00000512377.1:p.Gly236= | |
| ENST00000696079.1:c.708A>G (ADA) | ENSP00000512378.1:p.Gly236= | |
| ENST00000696080.1:c.711A>G (ADA) | ENSP00000512379.1:p.Gly237= | |
| ENST00000696081.1:n.830A>G (ADA) | ||
| ENST00000696082.1:c.786A>G (ADA) | ENSP00000512380.1:p.Gly262= | |
| ENST00000696083.1:n.1668A>G (ADA) | ||
| ENST00000696084.1:n.888A>G (ADA) | ||
| ENST00000696104.1:c.395A>G (ADA) | ENSP00000512399.1:p.Asp132Gly | |
| ENST00000372874.9:c.711A>G (ADA) MANE Select | ENSP00000361965.4:p.Gly237= | |
| ENST00000372874.8:c.711A>G (ADA) | ENSP00000361965.4:p.Gly237= | |
| ENST00000372887.5:c.152-1035T>C (PKIG) | ENSP00000361978.1:n.152-1035T>C | |
| ENST00000464097.5:n.461A>G (ADA) | ||
| ENST00000492931.5:n.871A>G (ADA) | ||
| ENST00000536532.5:c.711A>G (ADA) | ENSP00000440946.1:p.Gly237= | |
| ENST00000537820.1:c.639A>G (ADA) | ENSP00000441818.1:p.Gly213= | |
| ENST00000539235.5:c.*95A>G (ADA) | ENSP00000446464.1:n.*95A>G | |
| NM_000022.2:c.711A>G , LRG_16t1:c.711A>G (ADA) | NP_000013.2:p.Gly237= | |
| XM_005260236.2:c.639A>G (ADA) | XP_005260293.1:p.Gly213= | |
| XM_011528478.1:c.306A>G (ADA) | XP_011526780.1:p.Gly102= | |
| XM_011528479.1:c.306A>G (ADA) | XP_011526781.1:p.Gly102= | |
| XR_244129.1:n.765A>G (ADA) | ||
| NM_000022.3:c.711A>G (ADA) | NP_000013.2:p.Gly237= | |
| NM_001322050.1:c.306A>G (ADA) | NP_001308979.1:p.Gly102= | |
| NM_001322051.1:c.639A>G (ADA) | NP_001308980.1:p.Gly213= | |
| NR_136160.1:n.862A>G (ADA) | ||
| NM_000022.4:c.711A>G (ADA) MANE Select | NP_000013.2:p.Gly237= | |
| NM_001322050.2:c.306A>G (ADA) | NP_001308979.1:p.Gly102= | |
| NM_001322051.2:c.639A>G (ADA) | NP_001308980.1:p.Gly213= | |
| NR_136160.2:n.803A>G (ADA) |