UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393117G>T , CM000673.2:g.17393117G>T | GRCh38 |
| NC_000011.9:g.17414664G>T , CM000673.1:g.17414664G>T | GRCh37 |
| NC_000011.8:g.17371240G>T | NCBI36 |
| NG_008867.1:g.88786C>A | |
| NG_012446.1:g.543C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4221C>A | ||
| ENST00000526037.6:n.555C>A | ||
| ENST00000528374.2:c.1211C>A | ||
| ENST00000529967.6:n.2959C>A | ||
| ENST00000532220.2:n.3853C>A | ||
| ENST00000642611.2:n.5953C>A | ||
| ENST00000644057.2:n.1196C>A | ||
| ENST00000645004.2:n.2119C>A | ||
| ENST00000682051.1:n.4782C>A | ||
| ENST00000682110.1:n.4835C>A | ||
| ENST00000682140.1:c.*406C>A | ENSP00000507829.1:n.*406C>A | |
| ENST00000682185.1:n.5925C>A | ||
| ENST00000682204.1:c.*2758C>A | ENSP00000507094.1:n.*2758C>A | |
| ENST00000682215.1:n.5202C>A | ||
| ENST00000682288.1:c.*3051C>A | ENSP00000507506.1:n.*3051C>A | |
| ENST00000682442.1:n.5055C>A | ||
| ENST00000682528.1:n.4912C>A | ||
| ENST00000682673.1:n.4779C>A | ||
| ENST00000682805.1:n.5240C>A | ||
| ENST00000682965.1:c.*1042C>A | ENSP00000508229.1:n.*1042C>A | |
| ENST00000683093.1:n.5815C>A | ||
| ENST00000683136.1:c.4503C>A | ENSP00000507768.1:p.His1501Gln | |
| ENST00000683153.1:n.4877C>A | ||
| ENST00000683365.1:n.4937C>A | ||
| ENST00000683377.1:n.4731C>A | ||
| ENST00000683456.1:c.*1757C>A | ENSP00000508318.1:n.*1757C>A | |
| ENST00000683522.1:n.4917C>A | ||
| ENST00000683562.1:c.*2685C>A | ENSP00000508265.1:n.*2685C>A | |
| ENST00000683693.1:n.6296C>A | ||
| ENST00000683725.1:c.*85C>A | ENSP00000507496.1:n.*85C>A | |
| ENST00000684010.1:n.4830C>A | ||
| ENST00000684014.1:n.807C>A | ||
| ENST00000684157.1:n.5820C>A | ||
| ENST00000684253.1:n.4738C>A | ||
| ENST00000684288.1:c.*2792C>A | ENSP00000507143.1:n.*2792C>A | |
| ENST00000684313.1:n.4267C>A | ||
| ENST00000684332.1:n.4908C>A | ||
| ENST00000684371.1:n.4941C>A | ||
| ENST00000684404.1:n.5863C>A | ||
| ENST00000684442.1:n.5059C>A | ||
| ENST00000684555.1:c.*2832C>A | ENSP00000507705.1:n.*2832C>A | |
| ENST00000684571.1:c.4461C>A | ENSP00000506935.1:p.His1487Gln | |
| ENST00000684593.1:c.*4325C>A | ENSP00000507005.1:n.*4325C>A | |
| ENST00000684711.1:c.*3016C>A | ENSP00000506841.1:n.*3016C>A | |
| ENST00000302539.9:c.4623C>A | ENSP00000303960.4:p.His1541Gln | |
| ENST00000389817.8:c.4620C>A MANE Select | ENSP00000374467.4:p.His1540Gln | |
| ENST00000642271.1:c.4617C>A | ENSP00000493749.1:p.His1539Gln | |
| ENST00000642579.1:c.2674C>A | ||
| ENST00000642611.1:n.5838C>A | ||
| ENST00000642902.1:c.4402C>A | ||
| ENST00000643260.1:c.4620C>A | ENSP00000494450.1:p.His1540Gln | |
| ENST00000643562.1:c.*2742C>A | ENSP00000496124.1:n.*2742C>A | |
| ENST00000643925.1:c.3197C>A | ||
| ENST00000644057.1:n.779C>A | ||
| ENST00000644484.1:c.*4006C>A | ENSP00000493558.1:n.*4006C>A | |
| ENST00000644675.1:c.*2792C>A | ENSP00000494567.1:n.*2792C>A | |
| ENST00000644757.1:c.*3203-137C>A | ENSP00000495085.1:n.*3203-137C>A | |
| ENST00000644772.1:c.4686C>A | ENSP00000494321.1:p.His1562Gln | |
| ENST00000645004.1:n.2313C>A | ||
| ENST00000645076.1:c.3715C>A | ||
| ENST00000645417.1:c.1808C>A | ||
| ENST00000645744.1:c.*4305C>A | ENSP00000494564.1:n.*4305C>A | |
| ENST00000645760.1:c.5041C>A | ||
| ENST00000645884.1:c.*1903C>A | ENSP00000495516.1:n.*1903C>A | |
| ENST00000646003.1:c.*2642C>A | ENSP00000495259.1:n.*2642C>A | |
| ENST00000646207.1:c.*3457C>A | ENSP00000495025.1:n.*3457C>A | |
| ENST00000646276.1:c.*4024C>A | ENSP00000496070.1:n.*4024C>A | |
| ENST00000646592.1:c.3926C>A | ||
| ENST00000646902.1:c.4587C>A | ENSP00000494101.1:p.His1529Gln | |
| ENST00000646993.1:c.*3058C>A | ENSP00000493720.1:n.*3058C>A | |
| ENST00000647015.1:c.4371C>A | ENSP00000495389.1:p.His1457Gln | |
| ENST00000647086.1:c.*4206C>A | ENSP00000493677.1:n.*4206C>A | |
| ENST00000647158.1:c.*2907C>A | ENSP00000495744.1:n.*2907C>A | |
| ENST00000302539.8:c.4623C>A | ENSP00000303960.4:p.His1541Gln | |
| ENST00000389817.7:c.4620C>A | ENSP00000374467.3:p.His1540Gln | |
| ENST00000525022.1:n.599C>A | ||
| ENST00000526037.5:n.380C>A | ||
| ENST00000526168.5:c.408C>A | ||
| ENST00000531642.5:c.651C>A | ||
| NM_000352.4:c.4620C>A | NP_000343.2:p.His1540Gln | |
| NM_001287174.1:c.4623C>A | NP_001274103.1:p.His1541Gln | |
| XM_011520331.1:c.4620C>A | XP_011518633.1:p.His1540Gln | |
| XM_011520333.1:c.3120C>A | XP_011518635.1:p.His1040Gln | |
| XR_930890.1:n.4582C>A | ||
| NM_001351295.1:c.4686C>A | NP_001338224.1:p.His1562Gln | |
| NM_001351296.1:c.4620C>A | NP_001338225.1:p.His1540Gln | |
| NM_001351297.1:c.4617C>A | NP_001338226.1:p.His1539Gln | |
| NR_147094.1:n.4915C>A | ||
| XM_017018197.2:c.4689C>A | XP_016873686.1:p.His1563Gln | |
| XM_017018199.1:c.4686C>A | XP_016873688.1:p.His1562Gln | |
| XM_017018202.1:c.3186C>A | XP_016873691.1:p.His1062Gln | |
| XM_017018204.1:c.2577C>A | XP_016873693.1:p.His859Gln | |
| XM_024448668.1:c.2988C>A | XP_024304436.1:p.His996Gln | |
| XR_001747945.2:n.4657C>A | ||
| XR_001747946.2:n.4588C>A | ||
| XR_002957189.1:n.6371C>A | ||
| NM_000352.6:c.4620C>A MANE Select | NP_000343.2:p.His1540Gln | |
| NM_001287174.2:c.4623C>A | NP_001274103.1:p.His1541Gln | |
| NM_001351295.2:c.4686C>A | NP_001338224.1:p.His1562Gln | |
| NM_001351296.2:c.4620C>A | NP_001338225.1:p.His1540Gln | |
| NM_001351297.2:c.4617C>A | NP_001338226.1:p.His1539Gln | |
| NR_147094.2:n.4915C>A | ||
| NM_001287174.3:c.4623C>A | NP_001274103.1:p.His1541Gln |