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.44620397A>T , CM000682.2:g.44620397A>T | GRCh38 |
| NC_000020.10:g.43249038A>T , CM000682.1:g.43249038A>T | GRCh37 |
| NC_000020.9:g.42682452A>T | NCBI36 |
| NG_007385.1:g.36339T>A , LRG_16:g.36339T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1147T>A (ADA) | ||
| ENST00000536076.2:c.827T>A (ADA) | ENSP00000512234.1:p.Ile276Asn | |
| ENST00000536532.6:c.*123T>A (ADA) | ENSP00000440946.1:n.*123T>A | |
| ENST00000537820.2:c.908T>A (ADA) | ENSP00000441818.1:p.Ile303Asn | |
| ENST00000539235.6:c.*364T>A (ADA) | ENSP00000446464.1:n.*364T>A | |
| ENST00000695889.1:c.455T>A (ADA) | ENSP00000512240.1:p.Ile152Asn | |
| ENST00000695890.1:n.5091T>A (ADA) | ||
| ENST00000695891.1:c.520T>A (ADA) | ENSP00000512241.1:n.520T>A | |
| ENST00000695927.1:c.1058T>A (ADA) | ENSP00000512270.1:p.Ile353Asn | |
| ENST00000695949.1:c.905T>A (ADA) | ENSP00000512281.1:p.Ile302Asn | |
| ENST00000695956.1:c.135T>A (ADA) | ||
| ENST00000695957.1:c.*471T>A (ADA) | ENSP00000512286.1:n.*471T>A | |
| ENST00000695991.1:c.518T>A (ADA) | ENSP00000512314.1:p.Ile173Asn | |
| ENST00000695992.1:c.*123T>A (ADA) | ENSP00000512315.1:n.*123T>A | |
| ENST00000695993.1:c.980T>A (ADA) | ENSP00000512316.1:p.Ile327Asn | |
| ENST00000695994.1:c.*123T>A (ADA) | ENSP00000512317.1:n.*123T>A | |
| ENST00000695995.1:c.590T>A (ADA) | ENSP00000512318.1:p.Ile197Asn | |
| ENST00000695996.1:n.1062T>A (ADA) | ||
| ENST00000696003.1:n.2764T>A (ADA) | ||
| ENST00000696004.1:n.1764T>A (ADA) | ||
| ENST00000696005.1:c.430T>A (ADA) | ||
| ENST00000696006.1:c.*123T>A (ADA) | ENSP00000512325.1:n.*123T>A | |
| ENST00000696007.1:c.907T>A (ADA) | ENSP00000512326.1:n.907T>A | |
| ENST00000696008.1:n.3334T>A (ADA) | ||
| ENST00000696017.1:c.977T>A (ADA) | ENSP00000512333.1:p.Ile326Asn | |
| ENST00000696034.1:c.*123T>A (ADA) | ENSP00000512343.1:n.*123T>A | |
| ENST00000696035.1:n.1166T>A (ADA) | ||
| ENST00000696036.1:n.1681T>A (ADA) | ||
| ENST00000696037.1:n.2657T>A (ADA) | ||
| ENST00000696038.1:c.*737T>A (ADA) | ENSP00000512344.1:n.*737T>A | |
| ENST00000696039.1:n.1344T>A (ADA) | ||
| ENST00000696058.1:c.977T>A (ADA) | ENSP00000512361.1:p.Ile326Asn | |
| ENST00000696059.1:c.*925T>A (ADA) | ENSP00000512362.1:n.*925T>A | |
| ENST00000696060.1:c.1049T>A (ADA) | ENSP00000512363.1:p.Ile350Asn | |
| ENST00000696061.1:c.977T>A (ADA) | ENSP00000512364.1:p.Ile326Asn | |
| ENST00000696062.1:c.1043T>A (ADA) | ENSP00000512365.1:p.Ile348Asn | |
| ENST00000696063.1:c.1055T>A (ADA) | ENSP00000512366.1:p.Ile352Asn | |
| ENST00000696064.1:c.827T>A (ADA) | ENSP00000512367.1:p.Ile276Asn | |
| ENST00000696065.1:c.302T>A (ADA) | ENSP00000512368.1:p.Ile101Asn | |
| ENST00000696072.1:n.335T>A (ADA) | ||
| ENST00000696073.1:n.1291T>A (ADA) | ||
| ENST00000696074.1:n.531T>A (ADA) | ||
| ENST00000696075.1:c.*950T>A (ADA) | ENSP00000512374.1:n.*950T>A | |
| ENST00000696076.1:c.1049T>A (ADA) | ENSP00000512375.1:p.Ile350Asn | |
| ENST00000696077.1:c.974T>A (ADA) | ENSP00000512376.1:p.Ile325Asn | |
| ENST00000696078.1:c.977T>A (ADA) | ENSP00000512377.1:p.Ile326Asn | |
| ENST00000696079.1:c.977T>A (ADA) | ENSP00000512378.1:p.Ile326Asn | |
| ENST00000696080.1:c.980T>A (ADA) | ENSP00000512379.1:p.Ile327Asn | |
| ENST00000696081.1:n.1099T>A (ADA) | ||
| ENST00000696082.1:c.1055T>A (ADA) | ENSP00000512380.1:p.Ile352Asn | |
| ENST00000696083.1:n.1937T>A (ADA) | ||
| ENST00000696084.1:n.1157T>A (ADA) | ||
| ENST00000696104.1:c.*49T>A (ADA) | ENSP00000512399.1:n.*49T>A | |
| ENST00000372874.9:c.980T>A (ADA) MANE Select | ENSP00000361965.4:p.Ile327Asn | |
| ENST00000372874.8:c.980T>A (ADA) | ENSP00000361965.4:p.Ile327Asn | |
| ENST00000372887.5:c.152-3536A>T (PKIG) | ENSP00000361978.1:n.152-3536A>T | |
| ENST00000464097.5:n.1346T>A (ADA) | ||
| ENST00000492931.5:n.1140T>A (ADA) | ||
| ENST00000536532.5:c.*123T>A (ADA) | ENSP00000440946.1:n.*123T>A | |
| ENST00000537820.1:c.908T>A (ADA) | ENSP00000441818.1:p.Ile303Asn | |
| ENST00000539235.5:c.*364T>A (ADA) | ENSP00000446464.1:n.*364T>A | |
| NM_000022.2:c.980T>A , LRG_16t1:c.980T>A (ADA) | NP_000013.2:p.Ile327Asn | |
| XM_005260236.2:c.908T>A (ADA) | XP_005260293.1:p.Ile303Asn | |
| XM_011528478.1:c.575T>A (ADA) | XP_011526780.1:p.Ile192Asn | |
| XM_011528479.1:c.575T>A (ADA) | XP_011526781.1:p.Ile192Asn | |
| XR_244129.1:n.969T>A (ADA) | ||
| NM_000022.3:c.980T>A (ADA) | NP_000013.2:p.Ile327Asn | |
| NM_001322050.1:c.575T>A (ADA) | NP_001308979.1:p.Ile192Asn | |
| NM_001322051.1:c.908T>A (ADA) | NP_001308980.1:p.Ile303Asn | |
| NR_136160.1:n.1066T>A (ADA) | ||
| NM_000022.4:c.980T>A (ADA) MANE Select | NP_000013.2:p.Ile327Asn | |
| NM_001322050.2:c.575T>A (ADA) | NP_001308979.1:p.Ile192Asn | |
| NM_001322051.2:c.908T>A (ADA) | NP_001308980.1:p.Ile303Asn | |
| NR_136160.2:n.1007T>A (ADA) |