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.44622905C= , CM000682.2:g.44622905C= | GRCh38 |
| NC_000020.10:g.43251546C= , CM000682.1:g.43251546C= | GRCh37 |
| NC_000020.9:g.42684960C= | NCBI36 |
| NG_007385.1:g.33831G= , LRG_16:g.33831G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.871G= (ADA) | ||
| ENST00000536076.2:c.551G= (ADA) | ENSP00000512234.1:p.Arg184= | |
| ENST00000536532.6:c.704G= (ADA) | ENSP00000440946.1:p.Arg235= | |
| ENST00000537820.2:c.632G= (ADA) | ENSP00000441818.1:p.Arg211= | |
| ENST00000539235.6:c.*88G= (ADA) | ENSP00000446464.1:n.*88G= | |
| ENST00000695889.1:c.244G= (ADA) | ENSP00000512240.1:p.Gly82= | |
| ENST00000695890.1:n.2583G= (ADA) | ||
| ENST00000695891.1:c.244G= (ADA) | ENSP00000512241.1:p.Gly82= | |
| ENST00000695927.1:c.782G= (ADA) | ENSP00000512270.1:p.Arg261= | |
| ENST00000695949.1:c.629G= (ADA) | ENSP00000512281.1:p.Arg210= | |
| ENST00000695957.1:c.*195G= (ADA) | ENSP00000512286.1:n.*195G= | |
| ENST00000695991.1:c.242G= (ADA) | ENSP00000512314.1:p.Arg81= | |
| ENST00000695992.1:c.704G= (ADA) | ENSP00000512315.1:p.Arg235= | |
| ENST00000695993.1:c.704G= (ADA) | ENSP00000512316.1:p.Arg235= | |
| ENST00000695994.1:c.677G= (ADA) | ENSP00000512317.1:p.Arg226= | |
| ENST00000695995.1:c.314G= (ADA) | ENSP00000512318.1:p.Arg105= | |
| ENST00000695996.1:n.851G= (ADA) | ||
| ENST00000696003.1:n.872G= (ADA) | ||
| ENST00000696004.1:n.872G= (ADA) | ||
| ENST00000696005.1:c.154G= (ADA) | ||
| ENST00000696006.1:c.632G= (ADA) | ENSP00000512325.1:p.Arg211= | |
| ENST00000696007.1:c.631G= (ADA) | ENSP00000512326.1:n.631G= | |
| ENST00000696008.1:n.3058G= (ADA) | ||
| ENST00000696017.1:c.701G= (ADA) | ENSP00000512333.1:p.Arg234= | |
| ENST00000696034.1:c.704G= (ADA) | ENSP00000512343.1:p.Arg235= | |
| ENST00000696035.1:n.890G= (ADA) | ||
| ENST00000696036.1:n.1470G= (ADA) | ||
| ENST00000696037.1:n.2381G= (ADA) | ||
| ENST00000696038.1:c.*526G= (ADA) | ENSP00000512344.1:n.*526G= | |
| ENST00000696039.1:n.1068G= (ADA) | ||
| ENST00000696058.1:c.701G= (ADA) | ENSP00000512361.1:p.Arg234= | |
| ENST00000696059.1:c.*649G= (ADA) | ENSP00000512362.1:n.*649G= | |
| ENST00000696060.1:c.773G= (ADA) | ENSP00000512363.1:p.Arg258= | |
| ENST00000696061.1:c.701G= (ADA) | ENSP00000512364.1:p.Arg234= | |
| ENST00000696062.1:c.767G= (ADA) | ENSP00000512365.1:p.Arg256= | |
| ENST00000696063.1:c.779G= (ADA) | ENSP00000512366.1:p.Arg260= | |
| ENST00000696064.1:c.551G= (ADA) | ENSP00000512367.1:p.Arg184= | |
| ENST00000696065.1:c.91G= (ADA) | ENSP00000512368.1:p.Gly31= | |
| ENST00000696073.1:n.1015G= (ADA) | ||
| ENST00000696074.1:n.320G= (ADA) | ||
| ENST00000696075.1:c.*674G= (ADA) | ENSP00000512374.1:n.*674G= | |
| ENST00000696076.1:c.773G= (ADA) | ENSP00000512375.1:p.Arg258= | |
| ENST00000696077.1:c.698G= (ADA) | ENSP00000512376.1:p.Arg233= | |
| ENST00000696078.1:c.701G= (ADA) | ENSP00000512377.1:p.Arg234= | |
| ENST00000696079.1:c.701G= (ADA) | ENSP00000512378.1:p.Arg234= | |
| ENST00000696080.1:c.704G= (ADA) | ENSP00000512379.1:p.Arg235= | |
| ENST00000696081.1:n.823G= (ADA) | ||
| ENST00000696082.1:c.779G= (ADA) | ENSP00000512380.1:p.Arg260= | |
| ENST00000696083.1:n.1661G= (ADA) | ||
| ENST00000696084.1:n.881G= (ADA) | ||
| ENST00000696104.1:c.388G= (ADA) | ENSP00000512399.1:p.Gly130= | |
| ENST00000372874.9:c.704G= (ADA) MANE Select | ENSP00000361965.4:p.Arg235= | |
| ENST00000372874.8:c.704G= (ADA) | ENSP00000361965.4:p.Arg235= | |
| ENST00000372887.5:c.152-1028C= (PKIG) | ENSP00000361978.1:n.152-1028C= | |
| ENST00000464097.5:n.454G= (ADA) | ||
| ENST00000492931.5:n.864G= (ADA) | ||
| ENST00000536532.5:c.704G= (ADA) | ENSP00000440946.1:p.Arg235= | |
| ENST00000537820.1:c.632G= (ADA) | ENSP00000441818.1:p.Arg211= | |
| ENST00000539235.5:c.*88G= (ADA) | ENSP00000446464.1:n.*88G= | |
| NM_000022.2:c.704G= , LRG_16t1:c.704G= (ADA) | NP_000013.2:p.Arg235= | |
| XM_005260236.2:c.632G= (ADA) | XP_005260293.1:p.Arg211= | |
| XM_011528478.1:c.299G= (ADA) | XP_011526780.1:p.Arg100= | |
| XM_011528479.1:c.299G= (ADA) | XP_011526781.1:p.Arg100= | |
| XR_244129.1:n.758G= (ADA) | ||
| NM_000022.3:c.704G= (ADA) | NP_000013.2:p.Arg235= | |
| NM_001322050.1:c.299G= (ADA) | NP_001308979.1:p.Arg100= | |
| NM_001322051.1:c.632G= (ADA) | NP_001308980.1:p.Arg211= | |
| NR_136160.1:n.855G= (ADA) | ||
| NM_000022.4:c.704G= (ADA) MANE Select | NP_000013.2:p.Arg235= | |
| NM_001322050.2:c.299G= (ADA) | NP_001308979.1:p.Arg100= | |
| NM_001322051.2:c.632G= (ADA) | NP_001308980.1:p.Arg211= | |
| NR_136160.2:n.796G= (ADA) |