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.131522082T= , CM000671.2:g.131522082T= | GRCh38 |
| NC_000009.11:g.134397469T= , CM000671.1:g.134397469T= | GRCh37 |
| NC_000009.10:g.133387290T= | NCBI36 |
| NG_008896.1:g.24181T= | |
| NG_008896.2:g.24181T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1699T= | ENSP00000343034.7:p.Cys567= | |
| ENST00000404875.7:n.2401T= | ||
| ENST00000423007.6:c.1918T= | ENSP00000404119.2:p.Cys640= | |
| ENST00000677295.2:c.*2205T= | ENSP00000504346.2:n.*2205T= | |
| ENST00000678264.2:c.*2044T= | ENSP00000503157.2:n.*2044T= | |
| ENST00000682070.1:n.2291-120T= | ||
| ENST00000682813.1:n.2265T= | ||
| ENST00000683392.1:n.4573-120T= | ||
| ENST00000683712.1:n.2266T= | ||
| ENST00000683900.1:n.3761T= | ||
| ENST00000684062.1:n.2527T= | ||
| ENST00000684579.1:n.3707T= | ||
| ENST00000684679.1:n.1088T= | ||
| ENST00000341012.12:c.1699T= | ENSP00000343034.7:p.Cys567= | |
| ENST00000372220.5:c.730T= | ENSP00000361294.5:p.Cys244= | |
| ENST00000372228.9:c.1927T= | ENSP00000361302.3:p.Cys643= | |
| ENST00000402686.8:c.1861T= MANE Select | ENSP00000385797.4:p.Cys621= | |
| ENST00000676640.1:c.1861T= | ENSP00000503281.1:p.Cys621= | |
| ENST00000676803.1:c.922T= | ENSP00000503093.1:p.Cys308= | |
| ENST00000676835.1:c.*1076T= | ENSP00000502911.1:n.*1076T= | |
| ENST00000677029.1:c.1405T= | ENSP00000502936.1:p.Cys469= | |
| ENST00000677099.1:c.*1571T= | ENSP00000504553.1:n.*1571T= | |
| ENST00000677216.1:c.1510T= | ENSP00000503772.1:p.Cys504= | |
| ENST00000677221.1:n.886T= | ||
| ENST00000677295.1:c.*1203-120T= | ENSP00000504346.1:n.*1203-120T= | |
| ENST00000677444.1:c.1806T= | ||
| ENST00000677586.1:n.1228T= | ||
| ENST00000677626.1:c.1510T= | ENSP00000503552.1:p.Cys504= | |
| ENST00000677853.1:c.*869T= | ENSP00000503488.1:n.*869T= | |
| ENST00000678202.1:n.1020T= | ||
| ENST00000678264.1:c.*1238T= | ENSP00000503157.1:n.*1238T= | |
| ENST00000678303.1:c.1771T= | ENSP00000503696.1:p.Cys591= | |
| ENST00000678366.1:c.*2110T= | ENSP00000504353.1:n.*2110T= | |
| ENST00000678546.1:c.*1806T= | ENSP00000503062.1:n.*1806T= | |
| ENST00000678548.1:c.*2000T= | ENSP00000503934.1:n.*2000T= | |
| ENST00000678626.1:n.1697T= | ||
| ENST00000678739.1:c.*2147-120T= | ENSP00000503806.1:n.*2147-120T= | |
| ENST00000678833.1:c.*1613T= | ENSP00000503893.1:n.*1613T= | |
| ENST00000679023.1:c.1699T= | ENSP00000503718.1:p.Cys567= | |
| ENST00000679076.1:c.1480T= | ||
| ENST00000679111.1:c.*617T= | ENSP00000504257.1:n.*617T= | |
| ENST00000679189.1:c.1510T= | ENSP00000503356.1:p.Cys504= | |
| ENST00000341012.11:c.1699T= | ENSP00000343034.7:p.Cys567= | |
| ENST00000372220.4:c.724T= | ENSP00000361294.4:p.Cys242= | |
| ENST00000372228.7:c.1927T= | ENSP00000361302.3:p.Cys643= | |
| ENST00000402686.7:c.1861T= | ENSP00000385797.3:p.Cys621= | |
| ENST00000404875.6:c.1510T= | ENSP00000384531.2:p.Cys504= | |
| ENST00000423007.5:c.1861T= | ENSP00000404119.1:p.Cys621= | |
| ENST00000485278.5:n.2411T= | ||
| ENST00000494883.1:n.404T= | ||
| NM_001077365.1:c.1861T= | NP_001070833.1:p.Cys621= | |
| NM_001077366.1:c.1699T= | NP_001070834.1:p.Cys567= | |
| NM_001136113.1:c.1861T= | NP_001129585.1:p.Cys621= | |
| NM_001136114.1:c.1510T= | NP_001129586.1:p.Cys504= | |
| NM_007171.3:c.1927T= | NP_009102.3:p.Cys643= | |
| XM_005272156.1:c.1927T= | XP_005272213.1:p.Cys643= | |
| XM_005272158.1:c.1765T= | XP_005272215.1:p.Cys589= | |
| XM_005272159.1:c.1576T= | XP_005272216.1:p.Cys526= | |
| XM_005272162.1:c.730T= | XP_005272219.1:p.Cys244= | |
| XM_006716932.1:c.1576T= | XP_006716995.1:p.Cys526= | |
| XM_011518140.1:c.1780T= | XP_011516442.1:p.Cys594= | |
| XM_011518141.1:c.1714T= | XP_011516443.1:p.Cys572= | |
| XM_011518142.1:c.1618T= | XP_011516444.1:p.Cys540= | |
| XM_011518143.1:c.1612T= | XP_011516445.1:p.Cys538= | |
| XM_011518145.1:c.1471T= | XP_011516447.1:p.Cys491= | |
| XM_011518147.1:c.799T= | XP_011516449.1:p.Cys267= | |
| XR_929703.1:n.2103T= | ||
| NM_001353193.1:c.1927T= | NP_001340122.1:p.Cys643= | |
| NM_001353194.1:c.1699T= | NP_001340123.1:p.Cys567= | |
| NM_001353195.1:c.1510T= | NP_001340124.1:p.Cys504= | |
| NM_001353196.1:c.1771T= | NP_001340125.1:p.Cys591= | |
| NM_001353197.1:c.1765T= | NP_001340126.1:p.Cys589= | |
| NM_001353198.1:c.1765T= | NP_001340127.1:p.Cys589= | |
| NM_001353199.1:c.1576T= | NP_001340128.1:p.Cys526= | |
| NM_001353200.1:c.1405T= | NP_001340129.1:p.Cys469= | |
| NR_148391.1:n.1911T= | ||
| NR_148392.1:n.2129T= | ||
| NR_148393.1:n.2050T= | ||
| NR_148394.1:n.1804T= | ||
| NR_148395.1:n.2202T= | ||
| NR_148396.1:n.1836T= | ||
| NR_148397.1:n.1961T= | ||
| NR_148398.1:n.1916T= | ||
| NR_148399.1:n.2442T= | ||
| NR_148400.1:n.2041T= | ||
| XM_005272162.3:c.730T= | XP_005272219.1:p.Cys244= | |
| XM_006716932.2:c.1576T= | XP_006716995.1:p.Cys526= | |
| XM_011518140.2:c.1780T= | XP_011516442.1:p.Cys594= | |
| XM_011518141.2:c.1714T= | XP_011516443.1:p.Cys572= | |
| XM_011518142.2:c.1618T= | XP_011516444.1:p.Cys540= | |
| XM_011518143.2:c.1612T= | XP_011516445.1:p.Cys538= | |
| XM_011518145.2:c.1471T= | XP_011516447.1:p.Cys491= | |
| XM_017014205.2:c.730T= | XP_016869694.1:p.Cys244= | |
| XM_024447380.1:c.730T= | XP_024303148.1:p.Cys244= | |
| XM_024447381.1:c.1036T= | XP_024303149.1:p.Cys346= | |
| XM_024447382.1:c.730T= | XP_024303150.1:p.Cys244= | |
| XR_001746160.2:n.2031T= | ||
| XR_001746162.2:n.2236T= | ||
| XR_001746164.1:n.1953T= | ||
| XR_001746166.2:n.2248T= | ||
| NM_001077365.2:c.1861T= MANE Select | NP_001070833.1:p.Cys621= | |
| NM_001077366.2:c.1699T= | NP_001070834.1:p.Cys567= | |
| NM_001136113.2:c.1861T= | NP_001129585.1:p.Cys621= | |
| NM_001136114.2:c.1510T= | NP_001129586.1:p.Cys504= | |
| NM_001353193.2:c.1927T= | NP_001340122.2:p.Cys643= | |
| NM_001353194.2:c.1699T= | NP_001340123.1:p.Cys567= | |
| NM_001353195.2:c.1510T= | NP_001340124.1:p.Cys504= | |
| NM_001353196.2:c.1771T= | NP_001340125.1:p.Cys591= | |
| NM_001353197.2:c.1765T= | NP_001340126.2:p.Cys589= | |
| NM_001353198.2:c.1765T= | NP_001340127.2:p.Cys589= | |
| NM_001353199.2:c.1576T= | NP_001340128.2:p.Cys526= | |
| NM_001353200.2:c.1405T= | NP_001340129.1:p.Cys469= | |
| NM_001374689.1:c.1849T= | NP_001361618.1:p.Cys617= | |
| NM_001374690.1:c.1642T= | NP_001361619.1:p.Cys548= | |
| NM_001374691.1:c.1510T= | NP_001361620.1:p.Cys504= | |
| NM_001374692.1:c.1510T= | NP_001361621.1:p.Cys504= | |
| NM_001374693.1:c.1510T= | NP_001361622.1:p.Cys504= | |
| NM_001374695.1:c.1471T= | NP_001361624.1:p.Cys491= | |
| NM_007171.4:c.1927T= | NP_009102.4:p.Cys643= | |
| NR_148391.2:n.1895T= | ||
| NR_148392.2:n.2113T= | ||
| NR_148393.2:n.2034T= | ||
| NR_148394.2:n.1788T= | ||
| NR_148395.2:n.2186T= | ||
| NR_148396.2:n.1820T= | ||
| NR_148397.2:n.1945T= | ||
| NR_148398.2:n.1900T= | ||
| NR_148399.2:n.2426T= | ||
| NR_148400.2:n.2025T= |