WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50394842A= , CM000669.2:g.50394842A= | GRCh38 |
| NC_000007.13:g.50462540A= , CM000669.1:g.50462540A= | GRCh37 |
| NC_000007.12:g.50430034A= | NCBI36 |
| NG_034231.1:g.95760A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642219.2:c.649+2979A= | ENSP00000496655.2:n.649+2979A= | |
| ENST00000698573.1:c.329-5076A= | ENSP00000513804.1:n.329-5076A= | |
| ENST00000698574.1:c.910+2979A= | ENSP00000513805.1:n.910+2979A= | |
| ENST00000698575.1:c.422-5076A= | ENSP00000513806.1:n.422-5076A= | |
| ENST00000698577.1:n.85+3009A= | ||
| ENST00000331340.8:c.850+2979A= MANE Select | ENSP00000331614.3:n.850+2979A= | |
| ENST00000439701.2:c.724+2979A= | ENSP00000413025.1:n.724+2979A= | |
| ENST00000645066.1:c.463+2979A= | ENSP00000494055.1:n.463+2979A= | |
| ENST00000331340.7:c.850+2979A= | ENSP00000331614.3:n.850+2979A= | |
| ENST00000343574.9:c.589+2979A= | ENSP00000342750.5:n.589+2979A= | |
| ENST00000346667.8:c.41-5076A= | ENSP00000340080.5:n.41-5076A= | |
| ENST00000349824.8:c.422-5076A= | ENSP00000342485.4:n.422-5076A= | |
| ENST00000357364.8:c.590-5076A= | ENSP00000349928.4:n.590-5076A= | |
| ENST00000359197.9:c.724+2979A= | ENSP00000352123.5:n.724+2979A= | |
| ENST00000426121.1:c.110-5076A= | ENSP00000409588.1:n.110-5076A= | |
| ENST00000438033.5:c.589+2979A= | ENSP00000396554.1:n.589+2979A= | |
| ENST00000439701.1:c.724+2979A= | ENSP00000413025.1:n.724+2979A= | |
| ENST00000440768.6:c.175+2979A= | ENSP00000401507.3:n.175+2979A= | |
| ENST00000471793.1:n.1069+2979A= | ||
| ENST00000612658.4:c.295-5273A= | ENSP00000483016.1:n.295-5273A= | |
| ENST00000615491.4:c.301+2979A= | ENSP00000478368.1:n.301+2979A= | |
| NM_001220765.2:c.724+2979A= | NP_001207694.1:n.724+2979A= | |
| NM_001220767.2:c.559+3009A= | NP_001207696.1:n.559+3009A= | |
| NM_001220768.2:c.590-5076A= | NP_001207697.1:n.590-5076A= | |
| NM_001220770.2:c.433+3009A= | NP_001207699.1:n.433+3009A= | |
| NM_001220771.2:c.422-5076A= | NP_001207700.1:n.422-5076A= | |
| NM_001291837.1:c.724+2979A= | NP_001278766.1:n.724+2979A= | |
| NM_001291838.1:c.589+2979A= | NP_001278767.1:n.589+2979A= | |
| NM_001291839.1:c.463+2979A= | NP_001278768.1:n.463+2979A= | |
| NM_001291840.1:c.161-5076A= | NP_001278769.1:n.161-5076A= | |
| NM_001291841.1:c.421+2979A= | NP_001278770.1:n.421+2979A= | |
| NM_001291842.1:c.391+3009A= | NP_001278771.1:n.391+3009A= | |
| NM_001291843.1:c.295+2979A= | NP_001278772.1:n.295+2979A= | |
| NM_001291844.1:c.265+3009A= | NP_001278773.1:n.265+3009A= | |
| NM_006060.5:c.850+2979A= | NP_006051.1:n.850+2979A= | |
| XM_011515058.1:c.982+2979A= | XP_011513360.1:n.982+2979A= | |
| XM_011515059.1:c.952+3009A= | XP_011513361.1:n.952+3009A= | |
| XM_011515060.1:c.940+2979A= | XP_011513362.1:n.940+2979A= | |
| XM_011515061.1:c.922+2979A= | XP_011513363.1:n.922+2979A= | |
| XM_011515062.1:c.910+2979A= | XP_011513364.1:n.910+2979A= | |
| XM_011515063.1:c.910+2979A= | XP_011513365.1:n.910+2979A= | |
| XM_011515064.1:c.910+2979A= | XP_011513366.1:n.910+2979A= | |
| XM_011515065.1:c.910+2979A= | XP_011513367.1:n.910+2979A= | |
| XM_011515066.1:c.910+2979A= | XP_011513368.1:n.910+2979A= | |
| XM_011515067.1:c.856+2979A= | XP_011513369.1:n.856+2979A= | |
| XM_011515068.1:c.850+2979A= | XP_011513370.1:n.850+2979A= | |
| XM_011515069.1:c.850+2979A= | XP_011513371.1:n.850+2979A= | |
| XM_011515070.1:c.796+2979A= | XP_011513372.1:n.796+2979A= | |
| XM_011515071.1:c.721+2979A= | XP_011513373.1:n.721+2979A= | |
| XM_011515072.1:c.661+2979A= | XP_011513374.1:n.661+2979A= | |
| XM_011515073.1:c.649+2979A= | XP_011513375.1:n.649+2979A= | |
| XM_011515074.1:c.631+3009A= | XP_011513376.1:n.631+3009A= | |
| XM_011515075.1:c.589+2979A= | XP_011513377.1:n.589+2979A= | |
| XM_011515076.1:c.589+2979A= | XP_011513378.1:n.589+2979A= | |
| XM_011515077.1:c.535+2979A= | XP_011513379.1:n.535+2979A= | |
| XM_011515078.1:c.505+3009A= | XP_011513380.1:n.505+3009A= | |
| XR_927257.1:n.4549T= | ||
| NM_006060.6:c.850+2979A= MANE Select | NP_006051.1:n.850+2979A= | |
| XM_011515058.2:c.982+2979A= | XP_011513360.1:n.982+2979A= | |
| XM_011515059.3:c.952+3009A= | XP_011513361.1:n.952+3009A= | |
| XM_011515060.2:c.940+2979A= | XP_011513362.1:n.940+2979A= | |
| XM_011515061.3:c.922+2979A= | XP_011513363.1:n.922+2979A= | |
| XM_011515062.2:c.910+2979A= | XP_011513364.1:n.910+2979A= | |
| XM_011515063.2:c.910+2979A= | XP_011513365.1:n.910+2979A= | |
| XM_011515064.3:c.910+2979A= | XP_011513366.1:n.910+2979A= | |
| XM_011515065.2:c.910+2979A= | XP_011513367.1:n.910+2979A= | |
| XM_011515066.2:c.910+2979A= | XP_011513368.1:n.910+2979A= | |
| XM_011515067.3:c.856+2979A= | XP_011513369.1:n.856+2979A= | |
| XM_011515068.2:c.850+2979A= | XP_011513370.1:n.850+2979A= | |
| XM_011515069.2:c.850+2979A= | XP_011513371.1:n.850+2979A= | |
| XM_011515070.2:c.796+2979A= | XP_011513372.1:n.796+2979A= | |
| XM_011515071.2:c.721+2979A= | XP_011513373.1:n.721+2979A= | |
| XM_011515072.2:c.661+2979A= | XP_011513374.1:n.661+2979A= | |
| XM_011515073.2:c.649+2979A= | XP_011513375.1:n.649+2979A= | |
| XM_011515074.2:c.631+3009A= | XP_011513376.1:n.631+3009A= | |
| XM_011515075.2:c.589+2979A= | XP_011513377.1:n.589+2979A= | |
| XM_011515076.2:c.589+2979A= | XP_011513378.1:n.589+2979A= | |
| XM_011515077.2:c.535+2979A= | XP_011513379.1:n.535+2979A= | |
| XM_011515078.2:c.505+3009A= | XP_011513380.1:n.505+3009A= | |
| XM_017011667.1:c.649+2979A= | XP_016867156.1:n.649+2979A= | |
| XM_017011668.1:c.589+2979A= | XP_016867157.1:n.589+2979A= | |
| NM_001220765.3:c.724+2979A= | NP_001207694.1:n.724+2979A= | |
| NM_001291837.2:c.724+2979A= | NP_001278766.1:n.724+2979A= | |
| NM_001291838.2:c.589+2979A= | NP_001278767.1:n.589+2979A= | |
| NM_001291839.2:c.463+2979A= | NP_001278768.1:n.463+2979A= |