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.131513285G= , CM000671.2:g.131513285G= | GRCh38 |
| NC_000009.11:g.134388672G= , CM000671.1:g.134388672G= | GRCh37 |
| NC_000009.10:g.133378493G= | NCBI36 |
| NG_008896.1:g.15384G= | |
| NG_008896.2:g.15384G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.967G= | ENSP00000343034.7:p.Asp323= | |
| ENST00000404875.7:n.1669G= | ||
| ENST00000423007.6:c.1186G= | ENSP00000404119.2:p.Asp396= | |
| ENST00000677295.2:c.*1473G= | ENSP00000504346.2:n.*1473G= | |
| ENST00000678264.2:c.*1312G= | ENSP00000503157.2:n.*1312G= | |
| ENST00000682070.1:n.1594G= | ||
| ENST00000682813.1:n.1394G= | ||
| ENST00000683392.1:n.3876G= | ||
| ENST00000683712.1:n.1534G= | ||
| ENST00000683900.1:n.3029G= | ||
| ENST00000684062.1:n.1795G= | ||
| ENST00000684579.1:n.2975G= | ||
| ENST00000341012.12:c.967G= | ENSP00000343034.7:p.Asp323= | |
| ENST00000372220.5:c.-3G= | ENSP00000361294.5:n.-3G= | |
| ENST00000372228.9:c.1195G= | ENSP00000361302.3:p.Asp399= | |
| ENST00000402686.8:c.1129G= MANE Select | ENSP00000385797.4:p.Asp377= | |
| ENST00000676640.1:c.1129G= | ENSP00000503281.1:p.Asp377= | |
| ENST00000676803.1:c.304G= | ENSP00000503093.1:p.Asp102= | |
| ENST00000676835.1:c.*344G= | ENSP00000502911.1:n.*344G= | |
| ENST00000677029.1:c.673G= | ENSP00000502936.1:p.Asp225= | |
| ENST00000677099.1:c.*839G= | ENSP00000504553.1:n.*839G= | |
| ENST00000677216.1:c.778G= | ENSP00000503772.1:p.Asp260= | |
| ENST00000677293.1:c.304G= | ENSP00000504278.1:p.Asp102= | |
| ENST00000677295.1:c.*506G= | ENSP00000504346.1:n.*506G= | |
| ENST00000677444.1:c.935G= | ||
| ENST00000677586.1:n.610G= | ||
| ENST00000677626.1:c.824+1818G= | ENSP00000503552.1:n.824+1818G= | |
| ENST00000677677.1:n.1089G= | ||
| ENST00000677853.1:c.*137G= | ENSP00000503488.1:n.*137G= | |
| ENST00000677944.1:c.391G= | ||
| ENST00000678264.1:c.*506G= | ENSP00000503157.1:n.*506G= | |
| ENST00000678303.1:c.1039G= | ENSP00000503696.1:p.Asp347= | |
| ENST00000678366.1:c.*1378G= | ENSP00000504353.1:n.*1378G= | |
| ENST00000678546.1:c.*1074G= | ENSP00000503062.1:n.*1074G= | |
| ENST00000678548.1:c.*1201G= | ENSP00000503934.1:n.*1201G= | |
| ENST00000678626.1:n.826G= | ||
| ENST00000678733.1:c.256+1149G= | ||
| ENST00000678739.1:c.*1455G= | ENSP00000503806.1:n.*1455G= | |
| ENST00000678795.1:n.216G= | ||
| ENST00000678833.1:c.*576G= | ENSP00000503893.1:n.*576G= | |
| ENST00000678942.1:c.309G= | ENSP00000504690.1:n.309G= | |
| ENST00000679023.1:c.967G= | ENSP00000503718.1:p.Asp323= | |
| ENST00000679073.1:c.507G= | ENSP00000504356.1:n.507G= | |
| ENST00000679076.1:c.748G= | ||
| ENST00000679111.1:c.1129G= | ENSP00000504257.1:p.Asp377= | |
| ENST00000679189.1:c.778G= | ENSP00000503356.1:p.Asp260= | |
| ENST00000341012.11:c.967G= | ENSP00000343034.7:p.Asp323= | |
| ENST00000372228.7:c.1195G= | ENSP00000361302.3:p.Asp399= | |
| ENST00000402686.7:c.1129G= | ENSP00000385797.3:p.Asp377= | |
| ENST00000404875.6:c.778G= | ENSP00000384531.2:p.Asp260= | |
| ENST00000423007.5:c.1129G= | ENSP00000404119.1:p.Asp377= | |
| ENST00000441334.5:c.844G= | ENSP00000395060.1:p.Asp282= | |
| ENST00000462375.5:n.955G= | ||
| ENST00000485278.5:n.1684G= | ||
| NM_001077365.1:c.1129G= | NP_001070833.1:p.Asp377= | |
| NM_001077366.1:c.967G= | NP_001070834.1:p.Asp323= | |
| NM_001136113.1:c.1129G= | NP_001129585.1:p.Asp377= | |
| NM_001136114.1:c.778G= | NP_001129586.1:p.Asp260= | |
| NM_007171.3:c.1195G= | NP_009102.3:p.Asp399= | |
| XM_005272156.1:c.1195G= | XP_005272213.1:p.Asp399= | |
| XM_005272158.1:c.1033G= | XP_005272215.1:p.Asp345= | |
| XM_005272159.1:c.844G= | XP_005272216.1:p.Asp282= | |
| XM_005272162.1:c.-3G= | XP_005272219.1:n.-3G= | |
| XM_006716932.1:c.844G= | XP_006716995.1:p.Asp282= | |
| XM_011518140.1:c.1048G= | XP_011516442.1:p.Asp350= | |
| XM_011518141.1:c.982G= | XP_011516443.1:p.Asp328= | |
| XM_011518142.1:c.886G= | XP_011516444.1:p.Asp296= | |
| XM_011518143.1:c.880G= | XP_011516445.1:p.Asp294= | |
| XM_011518144.1:c.1195G= | XP_011516446.1:p.Asp399= | |
| XM_011518145.1:c.739G= | XP_011516447.1:p.Asp247= | |
| XM_011518146.1:c.880G= | XP_011516448.1:p.Asp294= | |
| XR_929703.1:n.1371G= | ||
| NM_001353193.1:c.1195G= | NP_001340122.1:p.Asp399= | |
| NM_001353194.1:c.967G= | NP_001340123.1:p.Asp323= | |
| NM_001353195.1:c.778G= | NP_001340124.1:p.Asp260= | |
| NM_001353196.1:c.1039G= | NP_001340125.1:p.Asp347= | |
| NM_001353197.1:c.1033G= | NP_001340126.1:p.Asp345= | |
| NM_001353198.1:c.1033G= | NP_001340127.1:p.Asp345= | |
| NM_001353199.1:c.844G= | NP_001340128.1:p.Asp282= | |
| NM_001353200.1:c.673G= | NP_001340129.1:p.Asp225= | |
| NR_148391.1:n.1179G= | ||
| NR_148392.1:n.1397G= | ||
| NR_148393.1:n.1179G= | ||
| NR_148394.1:n.1072G= | ||
| NR_148395.1:n.1331G= | ||
| NR_148396.1:n.965G= | ||
| NR_148397.1:n.1229G= | ||
| NR_148398.1:n.1184G= | ||
| NR_148399.1:n.1571G= | ||
| NR_148400.1:n.1170G= | ||
| XM_005272162.3:c.-3G= | XP_005272219.1:n.-3G= | |
| XM_006716932.2:c.844G= | XP_006716995.1:p.Asp282= | |
| XM_011518140.2:c.1048G= | XP_011516442.1:p.Asp350= | |
| XM_011518141.2:c.982G= | XP_011516443.1:p.Asp328= | |
| XM_011518142.2:c.886G= | XP_011516444.1:p.Asp296= | |
| XM_011518143.2:c.880G= | XP_011516445.1:p.Asp294= | |
| XM_011518145.2:c.739G= | XP_011516447.1:p.Asp247= | |
| XM_017014205.2:c.-3G= | XP_016869694.1:n.-3G= | |
| XM_024447380.1:c.-3G= | XP_024303148.1:n.-3G= | |
| XM_024447381.1:c.304G= | XP_024303149.1:p.Asp102= | |
| XM_024447382.1:c.-3G= | XP_024303150.1:n.-3G= | |
| XR_001746160.2:n.1299G= | ||
| XR_001746162.2:n.1365G= | ||
| XR_001746164.1:n.1082G= | ||
| XR_001746166.2:n.1516G= | ||
| NM_001077365.2:c.1129G= MANE Select | NP_001070833.1:p.Asp377= | |
| NM_001077366.2:c.967G= | NP_001070834.1:p.Asp323= | |
| NM_001136113.2:c.1129G= | NP_001129585.1:p.Asp377= | |
| NM_001136114.2:c.778G= | NP_001129586.1:p.Asp260= | |
| NM_001353193.2:c.1195G= | NP_001340122.2:p.Asp399= | |
| NM_001353194.2:c.967G= | NP_001340123.1:p.Asp323= | |
| NM_001353195.2:c.778G= | NP_001340124.1:p.Asp260= | |
| NM_001353196.2:c.1039G= | NP_001340125.1:p.Asp347= | |
| NM_001353197.2:c.1033G= | NP_001340126.2:p.Asp345= | |
| NM_001353198.2:c.1033G= | NP_001340127.2:p.Asp345= | |
| NM_001353199.2:c.844G= | NP_001340128.2:p.Asp282= | |
| NM_001353200.2:c.673G= | NP_001340129.1:p.Asp225= | |
| NM_001374689.1:c.1117G= | NP_001361618.1:p.Asp373= | |
| NM_001374690.1:c.1129G= | NP_001361619.1:p.Asp377= | |
| NM_001374691.1:c.778G= | NP_001361620.1:p.Asp260= | |
| NM_001374692.1:c.778G= | NP_001361621.1:p.Asp260= | |
| NM_001374693.1:c.824+1818G= | NP_001361622.1:n.824+1818G= | |
| NM_001374695.1:c.739G= | NP_001361624.1:p.Asp247= | |
| NM_007171.4:c.1195G= | NP_009102.4:p.Asp399= | |
| NR_148391.2:n.1163G= | ||
| NR_148392.2:n.1381G= | ||
| NR_148393.2:n.1163G= | ||
| NR_148394.2:n.1056G= | ||
| NR_148395.2:n.1315G= | ||
| NR_148396.2:n.949G= | ||
| NR_148397.2:n.1213G= | ||
| NR_148398.2:n.1168G= | ||
| NR_148399.2:n.1555G= | ||
| NR_148400.2:n.1154G= |