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_000009.12:g.131522065T= , CM000671.2:g.131522065T= | GRCh38 |
| NC_000009.11:g.134397452T= , CM000671.1:g.134397452T= | GRCh37 |
| NC_000009.10:g.133387273T= | NCBI36 |
| NG_008896.1:g.24164T= | |
| NG_008896.2:g.24164T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1682T= | ENSP00000343034.7:p.Val561= | |
| ENST00000404875.7:n.2384T= | ||
| ENST00000423007.6:c.1901T= | ENSP00000404119.2:p.Val634= | |
| ENST00000677295.2:c.*2188T= | ENSP00000504346.2:n.*2188T= | |
| ENST00000678264.2:c.*2027T= | ENSP00000503157.2:n.*2027T= | |
| ENST00000682070.1:n.2291-137T= | ||
| ENST00000682813.1:n.2248T= | ||
| ENST00000683392.1:n.4573-137T= | ||
| ENST00000683712.1:n.2249T= | ||
| ENST00000683900.1:n.3744T= | ||
| ENST00000684062.1:n.2510T= | ||
| ENST00000684579.1:n.3690T= | ||
| ENST00000684679.1:n.1071T= | ||
| ENST00000341012.12:c.1682T= | ENSP00000343034.7:p.Val561= | |
| ENST00000372220.5:c.713T= | ENSP00000361294.5:p.Val238= | |
| ENST00000372228.9:c.1910T= | ENSP00000361302.3:p.Val637= | |
| ENST00000402686.8:c.1844T= MANE Select | ENSP00000385797.4:p.Val615= | |
| ENST00000676640.1:c.1844T= | ENSP00000503281.1:p.Val615= | |
| ENST00000676803.1:c.905T= | ENSP00000503093.1:p.Val302= | |
| ENST00000676835.1:c.*1059T= | ENSP00000502911.1:n.*1059T= | |
| ENST00000677029.1:c.1388T= | ENSP00000502936.1:p.Val463= | |
| ENST00000677099.1:c.*1554T= | ENSP00000504553.1:n.*1554T= | |
| ENST00000677216.1:c.1493T= | ENSP00000503772.1:p.Val498= | |
| ENST00000677221.1:n.869T= | ||
| ENST00000677295.1:c.*1203-137T= | ENSP00000504346.1:n.*1203-137T= | |
| ENST00000677444.1:c.1789T= | ||
| ENST00000677586.1:n.1211T= | ||
| ENST00000677626.1:c.1493T= | ENSP00000503552.1:p.Val498= | |
| ENST00000677853.1:c.*852T= | ENSP00000503488.1:n.*852T= | |
| ENST00000678202.1:n.1003T= | ||
| ENST00000678264.1:c.*1221T= | ENSP00000503157.1:n.*1221T= | |
| ENST00000678303.1:c.1754T= | ENSP00000503696.1:p.Val585= | |
| ENST00000678366.1:c.*2093T= | ENSP00000504353.1:n.*2093T= | |
| ENST00000678546.1:c.*1789T= | ENSP00000503062.1:n.*1789T= | |
| ENST00000678548.1:c.*1983T= | ENSP00000503934.1:n.*1983T= | |
| ENST00000678626.1:n.1680T= | ||
| ENST00000678739.1:c.*2147-137T= | ENSP00000503806.1:n.*2147-137T= | |
| ENST00000678833.1:c.*1596T= | ENSP00000503893.1:n.*1596T= | |
| ENST00000679023.1:c.1682T= | ENSP00000503718.1:p.Val561= | |
| ENST00000679076.1:c.1463T= | ||
| ENST00000679111.1:c.*600T= | ENSP00000504257.1:n.*600T= | |
| ENST00000679189.1:c.1493T= | ENSP00000503356.1:p.Val498= | |
| ENST00000341012.11:c.1682T= | ENSP00000343034.7:p.Val561= | |
| ENST00000372220.4:c.707T= | ENSP00000361294.4:p.Val236= | |
| ENST00000372228.7:c.1910T= | ENSP00000361302.3:p.Val637= | |
| ENST00000402686.7:c.1844T= | ENSP00000385797.3:p.Val615= | |
| ENST00000404875.6:c.1493T= | ENSP00000384531.2:p.Val498= | |
| ENST00000423007.5:c.1844T= | ENSP00000404119.1:p.Val615= | |
| ENST00000485278.5:n.2394T= | ||
| ENST00000494883.1:n.387T= | ||
| NM_001077365.1:c.1844T= | NP_001070833.1:p.Val615= | |
| NM_001077366.1:c.1682T= | NP_001070834.1:p.Val561= | |
| NM_001136113.1:c.1844T= | NP_001129585.1:p.Val615= | |
| NM_001136114.1:c.1493T= | NP_001129586.1:p.Val498= | |
| NM_007171.3:c.1910T= | NP_009102.3:p.Val637= | |
| XM_005272156.1:c.1910T= | XP_005272213.1:p.Val637= | |
| XM_005272158.1:c.1748T= | XP_005272215.1:p.Val583= | |
| XM_005272159.1:c.1559T= | XP_005272216.1:p.Val520= | |
| XM_005272162.1:c.713T= | XP_005272219.1:p.Val238= | |
| XM_006716932.1:c.1559T= | XP_006716995.1:p.Val520= | |
| XM_011518140.1:c.1763T= | XP_011516442.1:p.Val588= | |
| XM_011518141.1:c.1697T= | XP_011516443.1:p.Val566= | |
| XM_011518142.1:c.1601T= | XP_011516444.1:p.Val534= | |
| XM_011518143.1:c.1595T= | XP_011516445.1:p.Val532= | |
| XM_011518145.1:c.1454T= | XP_011516447.1:p.Val485= | |
| XM_011518147.1:c.782T= | XP_011516449.1:p.Val261= | |
| XR_929703.1:n.2086T= | ||
| NM_001353193.1:c.1910T= | NP_001340122.1:p.Val637= | |
| NM_001353194.1:c.1682T= | NP_001340123.1:p.Val561= | |
| NM_001353195.1:c.1493T= | NP_001340124.1:p.Val498= | |
| NM_001353196.1:c.1754T= | NP_001340125.1:p.Val585= | |
| NM_001353197.1:c.1748T= | NP_001340126.1:p.Val583= | |
| NM_001353198.1:c.1748T= | NP_001340127.1:p.Val583= | |
| NM_001353199.1:c.1559T= | NP_001340128.1:p.Val520= | |
| NM_001353200.1:c.1388T= | NP_001340129.1:p.Val463= | |
| NR_148391.1:n.1894T= | ||
| NR_148392.1:n.2112T= | ||
| NR_148393.1:n.2033T= | ||
| NR_148394.1:n.1787T= | ||
| NR_148395.1:n.2185T= | ||
| NR_148396.1:n.1819T= | ||
| NR_148397.1:n.1944T= | ||
| NR_148398.1:n.1899T= | ||
| NR_148399.1:n.2425T= | ||
| NR_148400.1:n.2024T= | ||
| XM_005272162.3:c.713T= | XP_005272219.1:p.Val238= | |
| XM_006716932.2:c.1559T= | XP_006716995.1:p.Val520= | |
| XM_011518140.2:c.1763T= | XP_011516442.1:p.Val588= | |
| XM_011518141.2:c.1697T= | XP_011516443.1:p.Val566= | |
| XM_011518142.2:c.1601T= | XP_011516444.1:p.Val534= | |
| XM_011518143.2:c.1595T= | XP_011516445.1:p.Val532= | |
| XM_011518145.2:c.1454T= | XP_011516447.1:p.Val485= | |
| XM_017014205.2:c.713T= | XP_016869694.1:p.Val238= | |
| XM_024447380.1:c.713T= | XP_024303148.1:p.Val238= | |
| XM_024447381.1:c.1019T= | XP_024303149.1:p.Val340= | |
| XM_024447382.1:c.713T= | XP_024303150.1:p.Val238= | |
| XR_001746160.2:n.2014T= | ||
| XR_001746162.2:n.2219T= | ||
| XR_001746164.1:n.1936T= | ||
| XR_001746166.2:n.2231T= | ||
| NM_001077365.2:c.1844T= MANE Select | NP_001070833.1:p.Val615= | |
| NM_001077366.2:c.1682T= | NP_001070834.1:p.Val561= | |
| NM_001136113.2:c.1844T= | NP_001129585.1:p.Val615= | |
| NM_001136114.2:c.1493T= | NP_001129586.1:p.Val498= | |
| NM_001353193.2:c.1910T= | NP_001340122.2:p.Val637= | |
| NM_001353194.2:c.1682T= | NP_001340123.1:p.Val561= | |
| NM_001353195.2:c.1493T= | NP_001340124.1:p.Val498= | |
| NM_001353196.2:c.1754T= | NP_001340125.1:p.Val585= | |
| NM_001353197.2:c.1748T= | NP_001340126.2:p.Val583= | |
| NM_001353198.2:c.1748T= | NP_001340127.2:p.Val583= | |
| NM_001353199.2:c.1559T= | NP_001340128.2:p.Val520= | |
| NM_001353200.2:c.1388T= | NP_001340129.1:p.Val463= | |
| NM_001374689.1:c.1832T= | NP_001361618.1:p.Val611= | |
| NM_001374690.1:c.1625T= | NP_001361619.1:p.Val542= | |
| NM_001374691.1:c.1493T= | NP_001361620.1:p.Val498= | |
| NM_001374692.1:c.1493T= | NP_001361621.1:p.Val498= | |
| NM_001374693.1:c.1493T= | NP_001361622.1:p.Val498= | |
| NM_001374695.1:c.1454T= | NP_001361624.1:p.Val485= | |
| NM_007171.4:c.1910T= | NP_009102.4:p.Val637= | |
| NR_148391.2:n.1878T= | ||
| NR_148392.2:n.2096T= | ||
| NR_148393.2:n.2017T= | ||
| NR_148394.2:n.1771T= | ||
| NR_148395.2:n.2169T= | ||
| NR_148396.2:n.1803T= | ||
| NR_148397.2:n.1928T= | ||
| NR_148398.2:n.1883T= | ||
| NR_148399.2:n.2409T= | ||
| NR_148400.2:n.2008T= |