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.131523066G= , CM000671.2:g.131523066G= | GRCh38 |
| NC_000009.11:g.134398453G= , CM000671.1:g.134398453G= | GRCh37 |
| NC_000009.10:g.133388274G= | NCBI36 |
| NG_008896.1:g.25165G= | |
| NG_008896.2:g.25165G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1976G= | ENSP00000343034.7:p.Arg659= | |
| ENST00000404875.7:n.2678G= | ||
| ENST00000423007.6:c.2195G= | ENSP00000404119.2:p.Arg732= | |
| ENST00000677295.2:c.*2482G= | ENSP00000504346.2:n.*2482G= | |
| ENST00000678264.2:c.*2321G= | ENSP00000503157.2:n.*2321G= | |
| ENST00000682070.1:n.2448G= | ||
| ENST00000682639.1:c.135G= | ||
| ENST00000682813.1:n.2535G= | ||
| ENST00000683231.1:c.135G= | ||
| ENST00000683392.1:n.4730G= | ||
| ENST00000683712.1:n.2543G= | ||
| ENST00000683900.1:n.4038G= | ||
| ENST00000684062.1:n.2804G= | ||
| ENST00000684399.1:c.135G= | ||
| ENST00000684579.1:n.3984G= | ||
| ENST00000341012.12:c.1976G= | ENSP00000343034.7:p.Arg659= | |
| ENST00000372220.5:c.1007G= | ENSP00000361294.5:p.Arg336= | |
| ENST00000372228.9:c.2204G= | ENSP00000361302.3:p.Arg735= | |
| ENST00000402686.8:c.2138G= MANE Select | ENSP00000385797.4:p.Arg713= | |
| ENST00000676640.1:c.2138G= | ENSP00000503281.1:p.Arg713= | |
| ENST00000676803.1:c.1199G= | ENSP00000503093.1:p.Arg400= | |
| ENST00000676835.1:c.*1353G= | ENSP00000502911.1:n.*1353G= | |
| ENST00000677029.1:c.1682G= | ENSP00000502936.1:p.Arg561= | |
| ENST00000677099.1:c.*1848G= | ENSP00000504553.1:n.*1848G= | |
| ENST00000677216.1:c.1787G= | ENSP00000503772.1:p.Arg596= | |
| ENST00000677295.1:c.*1360G= | ENSP00000504346.1:n.*1360G= | |
| ENST00000677444.1:c.2083G= | ||
| ENST00000677586.1:n.1505G= | ||
| ENST00000677626.1:c.1787G= | ENSP00000503552.1:p.Arg596= | |
| ENST00000677853.1:c.*1146G= | ENSP00000503488.1:n.*1146G= | |
| ENST00000678264.1:c.*1515G= | ENSP00000503157.1:n.*1515G= | |
| ENST00000678303.1:c.2048G= | ENSP00000503696.1:p.Arg683= | |
| ENST00000678366.1:c.*2387G= | ENSP00000504353.1:n.*2387G= | |
| ENST00000678546.1:c.*2083G= | ENSP00000503062.1:n.*2083G= | |
| ENST00000678548.1:c.*2277G= | ENSP00000503934.1:n.*2277G= | |
| ENST00000678626.1:n.1974G= | ||
| ENST00000678739.1:c.*2304G= | ENSP00000503806.1:n.*2304G= | |
| ENST00000678833.1:c.*1890G= | ENSP00000503893.1:n.*1890G= | |
| ENST00000679023.1:c.1976G= | ENSP00000503718.1:p.Arg659= | |
| ENST00000679076.1:c.1757G= | ||
| ENST00000679111.1:c.*894G= | ENSP00000504257.1:n.*894G= | |
| ENST00000679189.1:c.1787G= | ENSP00000503356.1:p.Arg596= | |
| ENST00000341012.11:c.1976G= | ENSP00000343034.7:p.Arg659= | |
| ENST00000372220.4:c.1001G= | ENSP00000361294.4:p.Arg334= | |
| ENST00000372228.7:c.2204G= | ENSP00000361302.3:p.Arg735= | |
| ENST00000402686.7:c.2138G= | ENSP00000385797.3:p.Arg713= | |
| ENST00000404875.6:c.1787G= | ENSP00000384531.2:p.Arg596= | |
| ENST00000423007.5:c.2138G= | ENSP00000404119.1:p.Arg713= | |
| ENST00000485278.5:n.2688G= | ||
| NM_001077365.1:c.2138G= | NP_001070833.1:p.Arg713= | |
| NM_001077366.1:c.1976G= | NP_001070834.1:p.Arg659= | |
| NM_001136113.1:c.2138G= | NP_001129585.1:p.Arg713= | |
| NM_001136114.1:c.1787G= | NP_001129586.1:p.Arg596= | |
| NM_007171.3:c.2204G= | NP_009102.3:p.Arg735= | |
| XM_005272156.1:c.2204G= | XP_005272213.1:p.Arg735= | |
| XM_005272158.1:c.2042G= | XP_005272215.1:p.Arg681= | |
| XM_005272159.1:c.1853G= | XP_005272216.1:p.Arg618= | |
| XM_005272162.1:c.1007G= | XP_005272219.1:p.Arg336= | |
| XM_006716932.1:c.1853G= | XP_006716995.1:p.Arg618= | |
| XM_011518140.1:c.2057G= | XP_011516442.1:p.Arg686= | |
| XM_011518141.1:c.1991G= | XP_011516443.1:p.Arg664= | |
| XM_011518142.1:c.1895G= | XP_011516444.1:p.Arg632= | |
| XM_011518143.1:c.1889G= | XP_011516445.1:p.Arg630= | |
| XM_011518145.1:c.1748G= | XP_011516447.1:p.Arg583= | |
| XM_011518147.1:c.1076G= | XP_011516449.1:p.Arg359= | |
| XR_929703.1:n.2380G= | ||
| NM_001353193.1:c.2204G= | NP_001340122.1:p.Arg735= | |
| NM_001353194.1:c.1976G= | NP_001340123.1:p.Arg659= | |
| NM_001353195.1:c.1787G= | NP_001340124.1:p.Arg596= | |
| NM_001353196.1:c.2048G= | NP_001340125.1:p.Arg683= | |
| NM_001353197.1:c.2042G= | NP_001340126.1:p.Arg681= | |
| NM_001353198.1:c.2042G= | NP_001340127.1:p.Arg681= | |
| NM_001353199.1:c.1853G= | NP_001340128.1:p.Arg618= | |
| NM_001353200.1:c.1682G= | NP_001340129.1:p.Arg561= | |
| NR_148391.1:n.2188G= | ||
| NR_148392.1:n.2406G= | ||
| NR_148393.1:n.2327G= | ||
| NR_148394.1:n.2081G= | ||
| NR_148395.1:n.2479G= | ||
| NR_148396.1:n.2113G= | ||
| NR_148397.1:n.2238G= | ||
| NR_148398.1:n.2193G= | ||
| NR_148399.1:n.2719G= | ||
| NR_148400.1:n.2318G= | ||
| XM_005272162.3:c.1007G= | XP_005272219.1:p.Arg336= | |
| XM_006716932.2:c.1853G= | XP_006716995.1:p.Arg618= | |
| XM_011518140.2:c.2057G= | XP_011516442.1:p.Arg686= | |
| XM_011518141.2:c.1991G= | XP_011516443.1:p.Arg664= | |
| XM_011518142.2:c.1895G= | XP_011516444.1:p.Arg632= | |
| XM_011518143.2:c.1889G= | XP_011516445.1:p.Arg630= | |
| XM_011518145.2:c.1748G= | XP_011516447.1:p.Arg583= | |
| XM_017014205.2:c.1007G= | XP_016869694.1:p.Arg336= | |
| XM_024447380.1:c.1007G= | XP_024303148.1:p.Arg336= | |
| XM_024447381.1:c.1313G= | XP_024303149.1:p.Arg438= | |
| XM_024447382.1:c.1007G= | XP_024303150.1:p.Arg336= | |
| XR_001746160.2:n.2308G= | ||
| XR_001746162.2:n.2513G= | ||
| XR_001746164.1:n.2230G= | ||
| XR_001746166.2:n.2525G= | ||
| NM_001077365.2:c.2138G= MANE Select | NP_001070833.1:p.Arg713= | |
| NM_001077366.2:c.1976G= | NP_001070834.1:p.Arg659= | |
| NM_001136113.2:c.2138G= | NP_001129585.1:p.Arg713= | |
| NM_001136114.2:c.1787G= | NP_001129586.1:p.Arg596= | |
| NM_001353193.2:c.2204G= | NP_001340122.2:p.Arg735= | |
| NM_001353194.2:c.1976G= | NP_001340123.1:p.Arg659= | |
| NM_001353195.2:c.1787G= | NP_001340124.1:p.Arg596= | |
| NM_001353196.2:c.2048G= | NP_001340125.1:p.Arg683= | |
| NM_001353197.2:c.2042G= | NP_001340126.2:p.Arg681= | |
| NM_001353198.2:c.2042G= | NP_001340127.2:p.Arg681= | |
| NM_001353199.2:c.1853G= | NP_001340128.2:p.Arg618= | |
| NM_001353200.2:c.1682G= | NP_001340129.1:p.Arg561= | |
| NM_001374689.1:c.2126G= | NP_001361618.1:p.Arg709= | |
| NM_001374690.1:c.1919G= | NP_001361619.1:p.Arg640= | |
| NM_001374691.1:c.1787G= | NP_001361620.1:p.Arg596= | |
| NM_001374692.1:c.1787G= | NP_001361621.1:p.Arg596= | |
| NM_001374693.1:c.1787G= | NP_001361622.1:p.Arg596= | |
| NM_001374695.1:c.1748G= | NP_001361624.1:p.Arg583= | |
| NM_007171.4:c.2204G= | NP_009102.4:p.Arg735= | |
| NR_148391.2:n.2172G= | ||
| NR_148392.2:n.2390G= | ||
| NR_148393.2:n.2311G= | ||
| NR_148394.2:n.2065G= | ||
| NR_148395.2:n.2463G= | ||
| NR_148396.2:n.2097G= | ||
| NR_148397.2:n.2222G= | ||
| NR_148398.2:n.2177G= | ||
| NR_148399.2:n.2703G= | ||
| NR_148400.2:n.2302G= |