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.44620391G= , CM000682.2:g.44620391G= | GRCh38 |
| NC_000020.10:g.43249032G= , CM000682.1:g.43249032G= | GRCh37 |
| NC_000020.9:g.42682446G= | NCBI36 |
| NG_007385.1:g.36345C= , LRG_16:g.36345C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1153C= (ADA) | ||
| ENST00000536076.2:c.833C= (ADA) | ENSP00000512234.1:p.Ala278= | |
| ENST00000536532.6:c.*129C= (ADA) | ENSP00000440946.1:n.*129C= | |
| ENST00000537820.2:c.914C= (ADA) | ENSP00000441818.1:p.Ala305= | |
| ENST00000539235.6:c.*370C= (ADA) | ENSP00000446464.1:n.*370C= | |
| ENST00000695889.1:c.461C= (ADA) | ENSP00000512240.1:p.Ala154= | |
| ENST00000695890.1:n.5097C= (ADA) | ||
| ENST00000695891.1:c.526C= (ADA) | ENSP00000512241.1:n.526C= | |
| ENST00000695927.1:c.1064C= (ADA) | ENSP00000512270.1:p.Ala355= | |
| ENST00000695949.1:c.911C= (ADA) | ENSP00000512281.1:p.Ala304= | |
| ENST00000695956.1:c.141C= (ADA) | ||
| ENST00000695957.1:c.*477C= (ADA) | ENSP00000512286.1:n.*477C= | |
| ENST00000695991.1:c.524C= (ADA) | ENSP00000512314.1:p.Ala175= | |
| ENST00000695992.1:c.*129C= (ADA) | ENSP00000512315.1:n.*129C= | |
| ENST00000695993.1:c.986C= (ADA) | ENSP00000512316.1:p.Ala329= | |
| ENST00000695994.1:c.*129C= (ADA) | ENSP00000512317.1:n.*129C= | |
| ENST00000695995.1:c.596C= (ADA) | ENSP00000512318.1:p.Ala199= | |
| ENST00000695996.1:n.1068C= (ADA) | ||
| ENST00000696003.1:n.2770C= (ADA) | ||
| ENST00000696004.1:n.1770C= (ADA) | ||
| ENST00000696005.1:c.436C= (ADA) | ||
| ENST00000696006.1:c.*129C= (ADA) | ENSP00000512325.1:n.*129C= | |
| ENST00000696007.1:c.913C= (ADA) | ENSP00000512326.1:n.913C= | |
| ENST00000696008.1:n.3340C= (ADA) | ||
| ENST00000696017.1:c.983C= (ADA) | ENSP00000512333.1:p.Ala328= | |
| ENST00000696034.1:c.*129C= (ADA) | ENSP00000512343.1:n.*129C= | |
| ENST00000696035.1:n.1172C= (ADA) | ||
| ENST00000696036.1:n.1687C= (ADA) | ||
| ENST00000696037.1:n.2663C= (ADA) | ||
| ENST00000696038.1:c.*743C= (ADA) | ENSP00000512344.1:n.*743C= | |
| ENST00000696039.1:n.1350C= (ADA) | ||
| ENST00000696058.1:c.983C= (ADA) | ENSP00000512361.1:p.Ala328= | |
| ENST00000696059.1:c.*931C= (ADA) | ENSP00000512362.1:n.*931C= | |
| ENST00000696060.1:c.1055C= (ADA) | ENSP00000512363.1:p.Ala352= | |
| ENST00000696061.1:c.983C= (ADA) | ENSP00000512364.1:p.Ala328= | |
| ENST00000696062.1:c.1049C= (ADA) | ENSP00000512365.1:p.Ala350= | |
| ENST00000696063.1:c.1061C= (ADA) | ENSP00000512366.1:p.Ala354= | |
| ENST00000696064.1:c.833C= (ADA) | ENSP00000512367.1:p.Ala278= | |
| ENST00000696065.1:c.308C= (ADA) | ENSP00000512368.1:p.Ala103= | |
| ENST00000696072.1:n.341C= (ADA) | ||
| ENST00000696073.1:n.1297C= (ADA) | ||
| ENST00000696074.1:n.537C= (ADA) | ||
| ENST00000696075.1:c.*956C= (ADA) | ENSP00000512374.1:n.*956C= | |
| ENST00000696076.1:c.1055C= (ADA) | ENSP00000512375.1:p.Ala352= | |
| ENST00000696077.1:c.980C= (ADA) | ENSP00000512376.1:p.Ala327= | |
| ENST00000696078.1:c.983C= (ADA) | ENSP00000512377.1:p.Ala328= | |
| ENST00000696079.1:c.983C= (ADA) | ENSP00000512378.1:p.Ala328= | |
| ENST00000696080.1:c.986C= (ADA) | ENSP00000512379.1:p.Ala329= | |
| ENST00000696081.1:n.1105C= (ADA) | ||
| ENST00000696082.1:c.1061C= (ADA) | ENSP00000512380.1:p.Ala354= | |
| ENST00000696083.1:n.1943C= (ADA) | ||
| ENST00000696084.1:n.1163C= (ADA) | ||
| ENST00000696104.1:c.*55C= (ADA) | ENSP00000512399.1:n.*55C= | |
| ENST00000372874.9:c.986C= (ADA) MANE Select | ENSP00000361965.4:p.Ala329= | |
| ENST00000372874.8:c.986C= (ADA) | ENSP00000361965.4:p.Ala329= | |
| ENST00000372887.5:c.152-3542G= (PKIG) | ENSP00000361978.1:n.152-3542G= | |
| ENST00000464097.5:n.1352C= (ADA) | ||
| ENST00000492931.5:n.1146C= (ADA) | ||
| ENST00000536532.5:c.*129C= (ADA) | ENSP00000440946.1:n.*129C= | |
| ENST00000537820.1:c.914C= (ADA) | ENSP00000441818.1:p.Ala305= | |
| ENST00000539235.5:c.*370C= (ADA) | ENSP00000446464.1:n.*370C= | |
| NM_000022.2:c.986C= , LRG_16t1:c.986C= (ADA) | NP_000013.2:p.Ala329= | |
| XM_005260236.2:c.914C= (ADA) | XP_005260293.1:p.Ala305= | |
| XM_011528478.1:c.581C= (ADA) | XP_011526780.1:p.Ala194= | |
| XM_011528479.1:c.581C= (ADA) | XP_011526781.1:p.Ala194= | |
| XR_244129.1:n.975C= (ADA) | ||
| NM_000022.3:c.986C= (ADA) | NP_000013.2:p.Ala329= | |
| NM_001322050.1:c.581C= (ADA) | NP_001308979.1:p.Ala194= | |
| NM_001322051.1:c.914C= (ADA) | NP_001308980.1:p.Ala305= | |
| NR_136160.1:n.1072C= (ADA) | ||
| NM_000022.4:c.986C= (ADA) MANE Select | NP_000013.2:p.Ala329= | |
| NM_001322050.2:c.581C= (ADA) | NP_001308979.1:p.Ala194= | |
| NM_001322051.2:c.914C= (ADA) | NP_001308980.1:p.Ala305= | |
| NR_136160.2:n.1013C= (ADA) |