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.44622896T>A , CM000682.2:g.44622896T>A | GRCh38 |
| NC_000020.10:g.43251537T>A , CM000682.1:g.43251537T>A | GRCh37 |
| NC_000020.9:g.42684951T>A | NCBI36 |
| NG_007385.1:g.33840A>T , LRG_16:g.33840A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.880A>T (ADA) | ||
| ENST00000536076.2:c.560A>T (ADA) | ENSP00000512234.1:p.His187Leu | |
| ENST00000536532.6:c.713A>T (ADA) | ENSP00000440946.1:p.His238Leu | |
| ENST00000537820.2:c.641A>T (ADA) | ENSP00000441818.1:p.His214Leu | |
| ENST00000539235.6:c.*97A>T (ADA) | ENSP00000446464.1:n.*97A>T | |
| ENST00000695889.1:c.253A>T (ADA) | ENSP00000512240.1:p.Thr85Ser | |
| ENST00000695890.1:n.2592A>T (ADA) | ||
| ENST00000695891.1:c.253A>T (ADA) | ENSP00000512241.1:p.Thr85Ser | |
| ENST00000695927.1:c.791A>T (ADA) | ENSP00000512270.1:p.His264Leu | |
| ENST00000695949.1:c.638A>T (ADA) | ENSP00000512281.1:p.His213Leu | |
| ENST00000695957.1:c.*204A>T (ADA) | ENSP00000512286.1:n.*204A>T | |
| ENST00000695991.1:c.251A>T (ADA) | ENSP00000512314.1:p.His84Leu | |
| ENST00000695992.1:c.713A>T (ADA) | ENSP00000512315.1:p.His238Leu | |
| ENST00000695993.1:c.713A>T (ADA) | ENSP00000512316.1:p.His238Leu | |
| ENST00000695994.1:c.686A>T (ADA) | ENSP00000512317.1:p.His229Leu | |
| ENST00000695995.1:c.323A>T (ADA) | ENSP00000512318.1:p.His108Leu | |
| ENST00000695996.1:n.860A>T (ADA) | ||
| ENST00000696003.1:n.881A>T (ADA) | ||
| ENST00000696004.1:n.881A>T (ADA) | ||
| ENST00000696005.1:c.163A>T (ADA) | ||
| ENST00000696006.1:c.641A>T (ADA) | ENSP00000512325.1:p.His214Leu | |
| ENST00000696007.1:c.640A>T (ADA) | ENSP00000512326.1:n.640A>T | |
| ENST00000696008.1:n.3067A>T (ADA) | ||
| ENST00000696017.1:c.710A>T (ADA) | ENSP00000512333.1:p.His237Leu | |
| ENST00000696034.1:c.713A>T (ADA) | ENSP00000512343.1:p.His238Leu | |
| ENST00000696035.1:n.899A>T (ADA) | ||
| ENST00000696036.1:n.1479A>T (ADA) | ||
| ENST00000696037.1:n.2390A>T (ADA) | ||
| ENST00000696038.1:c.*535A>T (ADA) | ENSP00000512344.1:n.*535A>T | |
| ENST00000696039.1:n.1077A>T (ADA) | ||
| ENST00000696058.1:c.710A>T (ADA) | ENSP00000512361.1:p.His237Leu | |
| ENST00000696059.1:c.*658A>T (ADA) | ENSP00000512362.1:n.*658A>T | |
| ENST00000696060.1:c.782A>T (ADA) | ENSP00000512363.1:p.His261Leu | |
| ENST00000696061.1:c.710A>T (ADA) | ENSP00000512364.1:p.His237Leu | |
| ENST00000696062.1:c.776A>T (ADA) | ENSP00000512365.1:p.His259Leu | |
| ENST00000696063.1:c.788A>T (ADA) | ENSP00000512366.1:p.His263Leu | |
| ENST00000696064.1:c.560A>T (ADA) | ENSP00000512367.1:p.His187Leu | |
| ENST00000696065.1:c.100A>T (ADA) | ENSP00000512368.1:p.Thr34Ser | |
| ENST00000696073.1:n.1024A>T (ADA) | ||
| ENST00000696074.1:n.329A>T (ADA) | ||
| ENST00000696075.1:c.*683A>T (ADA) | ENSP00000512374.1:n.*683A>T | |
| ENST00000696076.1:c.782A>T (ADA) | ENSP00000512375.1:p.His261Leu | |
| ENST00000696077.1:c.707A>T (ADA) | ENSP00000512376.1:p.His236Leu | |
| ENST00000696078.1:c.710A>T (ADA) | ENSP00000512377.1:p.His237Leu | |
| ENST00000696079.1:c.710A>T (ADA) | ENSP00000512378.1:p.His237Leu | |
| ENST00000696080.1:c.713A>T (ADA) | ENSP00000512379.1:p.His238Leu | |
| ENST00000696081.1:n.832A>T (ADA) | ||
| ENST00000696082.1:c.788A>T (ADA) | ENSP00000512380.1:p.His263Leu | |
| ENST00000696083.1:n.1670A>T (ADA) | ||
| ENST00000696084.1:n.890A>T (ADA) | ||
| ENST00000696104.1:c.397A>T (ADA) | ENSP00000512399.1:p.Thr133Ser | |
| ENST00000372874.9:c.713A>T (ADA) MANE Select | ENSP00000361965.4:p.His238Leu | |
| ENST00000372874.8:c.713A>T (ADA) | ENSP00000361965.4:p.His238Leu | |
| ENST00000372887.5:c.152-1037T>A (PKIG) | ENSP00000361978.1:n.152-1037T>A | |
| ENST00000464097.5:n.463A>T (ADA) | ||
| ENST00000492931.5:n.873A>T (ADA) | ||
| ENST00000536532.5:c.713A>T (ADA) | ENSP00000440946.1:p.His238Leu | |
| ENST00000537820.1:c.641A>T (ADA) | ENSP00000441818.1:p.His214Leu | |
| ENST00000539235.5:c.*97A>T (ADA) | ENSP00000446464.1:n.*97A>T | |
| NM_000022.2:c.713A>T , LRG_16t1:c.713A>T (ADA) | NP_000013.2:p.His238Leu | |
| XM_005260236.2:c.641A>T (ADA) | XP_005260293.1:p.His214Leu | |
| XM_011528478.1:c.308A>T (ADA) | XP_011526780.1:p.His103Leu | |
| XM_011528479.1:c.308A>T (ADA) | XP_011526781.1:p.His103Leu | |
| XR_244129.1:n.767A>T (ADA) | ||
| NM_000022.3:c.713A>T (ADA) | NP_000013.2:p.His238Leu | |
| NM_001322050.1:c.308A>T (ADA) | NP_001308979.1:p.His103Leu | |
| NM_001322051.1:c.641A>T (ADA) | NP_001308980.1:p.His214Leu | |
| NR_136160.1:n.864A>T (ADA) | ||
| NM_000022.4:c.713A>T (ADA) MANE Select | NP_000013.2:p.His238Leu | |
| NM_001322050.2:c.308A>T (ADA) | NP_001308979.1:p.His103Leu | |
| NM_001322051.2:c.641A>T (ADA) | NP_001308980.1:p.His214Leu | |
| NR_136160.2:n.805A>T (ADA) |