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.131513288A= , CM000671.2:g.131513288A= | GRCh38 |
| NC_000009.11:g.134388675A= , CM000671.1:g.134388675A= | GRCh37 |
| NC_000009.10:g.133378496A= | NCBI36 |
| NG_008896.1:g.15387A= | |
| NG_008896.2:g.15387A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.970A= | ENSP00000343034.7:p.Met324= | |
| ENST00000404875.7:n.1672A= | ||
| ENST00000423007.6:c.1189A= | ENSP00000404119.2:p.Met397= | |
| ENST00000677295.2:c.*1476A= | ENSP00000504346.2:n.*1476A= | |
| ENST00000678264.2:c.*1315A= | ENSP00000503157.2:n.*1315A= | |
| ENST00000682070.1:n.1597A= | ||
| ENST00000682813.1:n.1397A= | ||
| ENST00000683392.1:n.3879A= | ||
| ENST00000683712.1:n.1537A= | ||
| ENST00000683900.1:n.3032A= | ||
| ENST00000684062.1:n.1798A= | ||
| ENST00000684579.1:n.2978A= | ||
| ENST00000341012.12:c.970A= | ENSP00000343034.7:p.Met324= | |
| ENST00000372220.5:c.1A= | ENSP00000361294.5:p.Met1= | |
| ENST00000372228.9:c.1198A= | ENSP00000361302.3:p.Met400= | |
| ENST00000402686.8:c.1132A= MANE Select | ENSP00000385797.4:p.Met378= | |
| ENST00000676640.1:c.1132A= | ENSP00000503281.1:p.Met378= | |
| ENST00000676803.1:c.307A= | ENSP00000503093.1:p.Met103= | |
| ENST00000676835.1:c.*347A= | ENSP00000502911.1:n.*347A= | |
| ENST00000677029.1:c.676A= | ENSP00000502936.1:p.Met226= | |
| ENST00000677099.1:c.*842A= | ENSP00000504553.1:n.*842A= | |
| ENST00000677216.1:c.781A= | ENSP00000503772.1:p.Met261= | |
| ENST00000677293.1:c.307A= | ENSP00000504278.1:p.Met103= | |
| ENST00000677295.1:c.*509A= | ENSP00000504346.1:n.*509A= | |
| ENST00000677444.1:c.938A= | ||
| ENST00000677586.1:n.613A= | ||
| ENST00000677626.1:c.824+1821A= | ENSP00000503552.1:n.824+1821A= | |
| ENST00000677677.1:n.1092A= | ||
| ENST00000677853.1:c.*140A= | ENSP00000503488.1:n.*140A= | |
| ENST00000677944.1:c.394A= | ||
| ENST00000678264.1:c.*509A= | ENSP00000503157.1:n.*509A= | |
| ENST00000678303.1:c.1042A= | ENSP00000503696.1:p.Met348= | |
| ENST00000678366.1:c.*1381A= | ENSP00000504353.1:n.*1381A= | |
| ENST00000678546.1:c.*1077A= | ENSP00000503062.1:n.*1077A= | |
| ENST00000678548.1:c.*1204A= | ENSP00000503934.1:n.*1204A= | |
| ENST00000678626.1:n.829A= | ||
| ENST00000678733.1:c.256+1152A= | ||
| ENST00000678739.1:c.*1458A= | ENSP00000503806.1:n.*1458A= | |
| ENST00000678795.1:n.219A= | ||
| ENST00000678833.1:c.*579A= | ENSP00000503893.1:n.*579A= | |
| ENST00000678942.1:c.312A= | ENSP00000504690.1:n.312A= | |
| ENST00000679023.1:c.970A= | ENSP00000503718.1:p.Met324= | |
| ENST00000679073.1:c.510A= | ENSP00000504356.1:n.510A= | |
| ENST00000679076.1:c.751A= | ||
| ENST00000679111.1:c.1132A= | ENSP00000504257.1:p.Met378= | |
| ENST00000679189.1:c.781A= | ENSP00000503356.1:p.Met261= | |
| ENST00000341012.11:c.970A= | ENSP00000343034.7:p.Met324= | |
| ENST00000372228.7:c.1198A= | ENSP00000361302.3:p.Met400= | |
| ENST00000402686.7:c.1132A= | ENSP00000385797.3:p.Met378= | |
| ENST00000404875.6:c.781A= | ENSP00000384531.2:p.Met261= | |
| ENST00000423007.5:c.1132A= | ENSP00000404119.1:p.Met378= | |
| ENST00000441334.5:c.847A= | ENSP00000395060.1:p.Met283= | |
| ENST00000462375.5:n.958A= | ||
| ENST00000485278.5:n.1687A= | ||
| NM_001077365.1:c.1132A= | NP_001070833.1:p.Met378= | |
| NM_001077366.1:c.970A= | NP_001070834.1:p.Met324= | |
| NM_001136113.1:c.1132A= | NP_001129585.1:p.Met378= | |
| NM_001136114.1:c.781A= | NP_001129586.1:p.Met261= | |
| NM_007171.3:c.1198A= | NP_009102.3:p.Met400= | |
| XM_005272156.1:c.1198A= | XP_005272213.1:p.Met400= | |
| XM_005272158.1:c.1036A= | XP_005272215.1:p.Met346= | |
| XM_005272159.1:c.847A= | XP_005272216.1:p.Met283= | |
| XM_005272162.1:c.1A= | XP_005272219.1:p.Met1= | |
| XM_006716932.1:c.847A= | XP_006716995.1:p.Met283= | |
| XM_011518140.1:c.1051A= | XP_011516442.1:p.Met351= | |
| XM_011518141.1:c.985A= | XP_011516443.1:p.Met329= | |
| XM_011518142.1:c.889A= | XP_011516444.1:p.Met297= | |
| XM_011518143.1:c.883A= | XP_011516445.1:p.Met295= | |
| XM_011518144.1:c.1198A= | XP_011516446.1:p.Met400= | |
| XM_011518145.1:c.742A= | XP_011516447.1:p.Met248= | |
| XM_011518146.1:c.883A= | XP_011516448.1:p.Met295= | |
| XR_929703.1:n.1374A= | ||
| NM_001353193.1:c.1198A= | NP_001340122.1:p.Met400= | |
| NM_001353194.1:c.970A= | NP_001340123.1:p.Met324= | |
| NM_001353195.1:c.781A= | NP_001340124.1:p.Met261= | |
| NM_001353196.1:c.1042A= | NP_001340125.1:p.Met348= | |
| NM_001353197.1:c.1036A= | NP_001340126.1:p.Met346= | |
| NM_001353198.1:c.1036A= | NP_001340127.1:p.Met346= | |
| NM_001353199.1:c.847A= | NP_001340128.1:p.Met283= | |
| NM_001353200.1:c.676A= | NP_001340129.1:p.Met226= | |
| NR_148391.1:n.1182A= | ||
| NR_148392.1:n.1400A= | ||
| NR_148393.1:n.1182A= | ||
| NR_148394.1:n.1075A= | ||
| NR_148395.1:n.1334A= | ||
| NR_148396.1:n.968A= | ||
| NR_148397.1:n.1232A= | ||
| NR_148398.1:n.1187A= | ||
| NR_148399.1:n.1574A= | ||
| NR_148400.1:n.1173A= | ||
| XM_005272162.3:c.1A= | XP_005272219.1:p.Met1= | |
| XM_006716932.2:c.847A= | XP_006716995.1:p.Met283= | |
| XM_011518140.2:c.1051A= | XP_011516442.1:p.Met351= | |
| XM_011518141.2:c.985A= | XP_011516443.1:p.Met329= | |
| XM_011518142.2:c.889A= | XP_011516444.1:p.Met297= | |
| XM_011518143.2:c.883A= | XP_011516445.1:p.Met295= | |
| XM_011518145.2:c.742A= | XP_011516447.1:p.Met248= | |
| XM_017014205.2:c.1A= | XP_016869694.1:p.Met1= | |
| XM_024447380.1:c.1A= | XP_024303148.1:p.Met1= | |
| XM_024447381.1:c.307A= | XP_024303149.1:p.Met103= | |
| XM_024447382.1:c.1A= | XP_024303150.1:p.Met1= | |
| XR_001746160.2:n.1302A= | ||
| XR_001746162.2:n.1368A= | ||
| XR_001746164.1:n.1085A= | ||
| XR_001746166.2:n.1519A= | ||
| NM_001077365.2:c.1132A= MANE Select | NP_001070833.1:p.Met378= | |
| NM_001077366.2:c.970A= | NP_001070834.1:p.Met324= | |
| NM_001136113.2:c.1132A= | NP_001129585.1:p.Met378= | |
| NM_001136114.2:c.781A= | NP_001129586.1:p.Met261= | |
| NM_001353193.2:c.1198A= | NP_001340122.2:p.Met400= | |
| NM_001353194.2:c.970A= | NP_001340123.1:p.Met324= | |
| NM_001353195.2:c.781A= | NP_001340124.1:p.Met261= | |
| NM_001353196.2:c.1042A= | NP_001340125.1:p.Met348= | |
| NM_001353197.2:c.1036A= | NP_001340126.2:p.Met346= | |
| NM_001353198.2:c.1036A= | NP_001340127.2:p.Met346= | |
| NM_001353199.2:c.847A= | NP_001340128.2:p.Met283= | |
| NM_001353200.2:c.676A= | NP_001340129.1:p.Met226= | |
| NM_001374689.1:c.1120A= | NP_001361618.1:p.Met374= | |
| NM_001374690.1:c.1132A= | NP_001361619.1:p.Met378= | |
| NM_001374691.1:c.781A= | NP_001361620.1:p.Met261= | |
| NM_001374692.1:c.781A= | NP_001361621.1:p.Met261= | |
| NM_001374693.1:c.824+1821A= | NP_001361622.1:n.824+1821A= | |
| NM_001374695.1:c.742A= | NP_001361624.1:p.Met248= | |
| NM_007171.4:c.1198A= | NP_009102.4:p.Met400= | |
| NR_148391.2:n.1166A= | ||
| NR_148392.2:n.1384A= | ||
| NR_148393.2:n.1166A= | ||
| NR_148394.2:n.1059A= | ||
| NR_148395.2:n.1318A= | ||
| NR_148396.2:n.952A= | ||
| NR_148397.2:n.1216A= | ||
| NR_148398.2:n.1171A= | ||
| NR_148399.2:n.1558A= | ||
| NR_148400.2:n.1157A= |