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.131523071A= , CM000671.2:g.131523071A= | GRCh38 |
| NC_000009.11:g.134398458A= , CM000671.1:g.134398458A= | GRCh37 |
| NC_000009.10:g.133388279A= | NCBI36 |
| NG_008896.1:g.25170A= | |
| NG_008896.2:g.25170A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1981A= | ENSP00000343034.7:p.Lys661= | |
| ENST00000404875.7:n.2683A= | ||
| ENST00000423007.6:c.2200A= | ENSP00000404119.2:p.Lys734= | |
| ENST00000677295.2:c.*2487A= | ENSP00000504346.2:n.*2487A= | |
| ENST00000678264.2:c.*2326A= | ENSP00000503157.2:n.*2326A= | |
| ENST00000682070.1:n.2453A= | ||
| ENST00000682639.1:c.140A= | ||
| ENST00000682813.1:n.2540A= | ||
| ENST00000683231.1:c.140A= | ||
| ENST00000683392.1:n.4735A= | ||
| ENST00000683712.1:n.2548A= | ||
| ENST00000683900.1:n.4043A= | ||
| ENST00000684062.1:n.2809A= | ||
| ENST00000684399.1:c.140A= | ||
| ENST00000684579.1:n.3989A= | ||
| ENST00000341012.12:c.1981A= | ENSP00000343034.7:p.Lys661= | |
| ENST00000372220.5:c.1012A= | ENSP00000361294.5:p.Lys338= | |
| ENST00000372228.9:c.2209A= | ENSP00000361302.3:p.Lys737= | |
| ENST00000402686.8:c.2143A= MANE Select | ENSP00000385797.4:p.Lys715= | |
| ENST00000676640.1:c.2143A= | ENSP00000503281.1:p.Lys715= | |
| ENST00000676803.1:c.1204A= | ENSP00000503093.1:p.Lys402= | |
| ENST00000676835.1:c.*1358A= | ENSP00000502911.1:n.*1358A= | |
| ENST00000677029.1:c.1687A= | ENSP00000502936.1:p.Lys563= | |
| ENST00000677099.1:c.*1853A= | ENSP00000504553.1:n.*1853A= | |
| ENST00000677216.1:c.1792A= | ENSP00000503772.1:p.Lys598= | |
| ENST00000677295.1:c.*1365A= | ENSP00000504346.1:n.*1365A= | |
| ENST00000677444.1:c.2088A= | ||
| ENST00000677586.1:n.1510A= | ||
| ENST00000677626.1:c.1792A= | ENSP00000503552.1:p.Lys598= | |
| ENST00000677853.1:c.*1151A= | ENSP00000503488.1:n.*1151A= | |
| ENST00000678264.1:c.*1520A= | ENSP00000503157.1:n.*1520A= | |
| ENST00000678303.1:c.2053A= | ENSP00000503696.1:p.Lys685= | |
| ENST00000678366.1:c.*2392A= | ENSP00000504353.1:n.*2392A= | |
| ENST00000678546.1:c.*2088A= | ENSP00000503062.1:n.*2088A= | |
| ENST00000678548.1:c.*2282A= | ENSP00000503934.1:n.*2282A= | |
| ENST00000678626.1:n.1979A= | ||
| ENST00000678739.1:c.*2309A= | ENSP00000503806.1:n.*2309A= | |
| ENST00000678833.1:c.*1895A= | ENSP00000503893.1:n.*1895A= | |
| ENST00000679023.1:c.1981A= | ENSP00000503718.1:p.Lys661= | |
| ENST00000679076.1:c.1762A= | ||
| ENST00000679111.1:c.*899A= | ENSP00000504257.1:n.*899A= | |
| ENST00000679189.1:c.1792A= | ENSP00000503356.1:p.Lys598= | |
| ENST00000341012.11:c.1981A= | ENSP00000343034.7:p.Lys661= | |
| ENST00000372220.4:c.1006A= | ENSP00000361294.4:p.Lys336= | |
| ENST00000372228.7:c.2209A= | ENSP00000361302.3:p.Lys737= | |
| ENST00000402686.7:c.2143A= | ENSP00000385797.3:p.Lys715= | |
| ENST00000404875.6:c.1792A= | ENSP00000384531.2:p.Lys598= | |
| ENST00000423007.5:c.2143A= | ENSP00000404119.1:p.Lys715= | |
| ENST00000485278.5:n.2693A= | ||
| NM_001077365.1:c.2143A= | NP_001070833.1:p.Lys715= | |
| NM_001077366.1:c.1981A= | NP_001070834.1:p.Lys661= | |
| NM_001136113.1:c.2143A= | NP_001129585.1:p.Lys715= | |
| NM_001136114.1:c.1792A= | NP_001129586.1:p.Lys598= | |
| NM_007171.3:c.2209A= | NP_009102.3:p.Lys737= | |
| XM_005272156.1:c.2209A= | XP_005272213.1:p.Lys737= | |
| XM_005272158.1:c.2047A= | XP_005272215.1:p.Lys683= | |
| XM_005272159.1:c.1858A= | XP_005272216.1:p.Lys620= | |
| XM_005272162.1:c.1012A= | XP_005272219.1:p.Lys338= | |
| XM_006716932.1:c.1858A= | XP_006716995.1:p.Lys620= | |
| XM_011518140.1:c.2062A= | XP_011516442.1:p.Lys688= | |
| XM_011518141.1:c.1996A= | XP_011516443.1:p.Lys666= | |
| XM_011518142.1:c.1900A= | XP_011516444.1:p.Lys634= | |
| XM_011518143.1:c.1894A= | XP_011516445.1:p.Lys632= | |
| XM_011518145.1:c.1753A= | XP_011516447.1:p.Lys585= | |
| XM_011518147.1:c.1081A= | XP_011516449.1:p.Lys361= | |
| XR_929703.1:n.2385A= | ||
| NM_001353193.1:c.2209A= | NP_001340122.1:p.Lys737= | |
| NM_001353194.1:c.1981A= | NP_001340123.1:p.Lys661= | |
| NM_001353195.1:c.1792A= | NP_001340124.1:p.Lys598= | |
| NM_001353196.1:c.2053A= | NP_001340125.1:p.Lys685= | |
| NM_001353197.1:c.2047A= | NP_001340126.1:p.Lys683= | |
| NM_001353198.1:c.2047A= | NP_001340127.1:p.Lys683= | |
| NM_001353199.1:c.1858A= | NP_001340128.1:p.Lys620= | |
| NM_001353200.1:c.1687A= | NP_001340129.1:p.Lys563= | |
| NR_148391.1:n.2193A= | ||
| NR_148392.1:n.2411A= | ||
| NR_148393.1:n.2332A= | ||
| NR_148394.1:n.2086A= | ||
| NR_148395.1:n.2484A= | ||
| NR_148396.1:n.2118A= | ||
| NR_148397.1:n.2243A= | ||
| NR_148398.1:n.2198A= | ||
| NR_148399.1:n.2724A= | ||
| NR_148400.1:n.2323A= | ||
| XM_005272162.3:c.1012A= | XP_005272219.1:p.Lys338= | |
| XM_006716932.2:c.1858A= | XP_006716995.1:p.Lys620= | |
| XM_011518140.2:c.2062A= | XP_011516442.1:p.Lys688= | |
| XM_011518141.2:c.1996A= | XP_011516443.1:p.Lys666= | |
| XM_011518142.2:c.1900A= | XP_011516444.1:p.Lys634= | |
| XM_011518143.2:c.1894A= | XP_011516445.1:p.Lys632= | |
| XM_011518145.2:c.1753A= | XP_011516447.1:p.Lys585= | |
| XM_017014205.2:c.1012A= | XP_016869694.1:p.Lys338= | |
| XM_024447380.1:c.1012A= | XP_024303148.1:p.Lys338= | |
| XM_024447381.1:c.1318A= | XP_024303149.1:p.Lys440= | |
| XM_024447382.1:c.1012A= | XP_024303150.1:p.Lys338= | |
| XR_001746160.2:n.2313A= | ||
| XR_001746162.2:n.2518A= | ||
| XR_001746164.1:n.2235A= | ||
| XR_001746166.2:n.2530A= | ||
| NM_001077365.2:c.2143A= MANE Select | NP_001070833.1:p.Lys715= | |
| NM_001077366.2:c.1981A= | NP_001070834.1:p.Lys661= | |
| NM_001136113.2:c.2143A= | NP_001129585.1:p.Lys715= | |
| NM_001136114.2:c.1792A= | NP_001129586.1:p.Lys598= | |
| NM_001353193.2:c.2209A= | NP_001340122.2:p.Lys737= | |
| NM_001353194.2:c.1981A= | NP_001340123.1:p.Lys661= | |
| NM_001353195.2:c.1792A= | NP_001340124.1:p.Lys598= | |
| NM_001353196.2:c.2053A= | NP_001340125.1:p.Lys685= | |
| NM_001353197.2:c.2047A= | NP_001340126.2:p.Lys683= | |
| NM_001353198.2:c.2047A= | NP_001340127.2:p.Lys683= | |
| NM_001353199.2:c.1858A= | NP_001340128.2:p.Lys620= | |
| NM_001353200.2:c.1687A= | NP_001340129.1:p.Lys563= | |
| NM_001374689.1:c.2131A= | NP_001361618.1:p.Lys711= | |
| NM_001374690.1:c.1924A= | NP_001361619.1:p.Lys642= | |
| NM_001374691.1:c.1792A= | NP_001361620.1:p.Lys598= | |
| NM_001374692.1:c.1792A= | NP_001361621.1:p.Lys598= | |
| NM_001374693.1:c.1792A= | NP_001361622.1:p.Lys598= | |
| NM_001374695.1:c.1753A= | NP_001361624.1:p.Lys585= | |
| NM_007171.4:c.2209A= | NP_009102.4:p.Lys737= | |
| NR_148391.2:n.2177A= | ||
| NR_148392.2:n.2395A= | ||
| NR_148393.2:n.2316A= | ||
| NR_148394.2:n.2070A= | ||
| NR_148395.2:n.2468A= | ||
| NR_148396.2:n.2102A= | ||
| NR_148397.2:n.2227A= | ||
| NR_148398.2:n.2182A= | ||
| NR_148399.2:n.2708A= | ||
| NR_148400.2:n.2307A= |