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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395714G= , CM000673.2:g.17395714G= | GRCh38 |
| NC_000011.9:g.17417261G= , CM000673.1:g.17417261G= | GRCh37 |
| NC_000011.8:g.17373837G= | NCBI36 |
| NG_008867.1:g.86189C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3804C= | ||
| ENST00000528374.2:c.794C= | ||
| ENST00000529967.6:n.2542C= | ||
| ENST00000532220.2:n.3436C= | ||
| ENST00000642611.2:n.5536C= | ||
| ENST00000644057.2:n.779C= | ||
| ENST00000645004.2:n.1702C= | ||
| ENST00000682051.1:n.4365C= | ||
| ENST00000682110.1:n.4418C= | ||
| ENST00000682140.1:c.4069C= | ENSP00000507829.1:p.His1357= | |
| ENST00000682185.1:n.5508C= | ||
| ENST00000682204.1:c.*2341C= | ENSP00000507094.1:n.*2341C= | |
| ENST00000682215.1:n.4785C= | ||
| ENST00000682288.1:c.*2634C= | ENSP00000507506.1:n.*2634C= | |
| ENST00000682442.1:n.4638C= | ||
| ENST00000682528.1:n.4495C= | ||
| ENST00000682673.1:n.4362C= | ||
| ENST00000682805.1:n.4823C= | ||
| ENST00000682965.1:c.*625C= | ENSP00000508229.1:n.*625C= | |
| ENST00000683093.1:n.5502C= | ||
| ENST00000683136.1:c.4086C= | ENSP00000507768.1:p.His1362= | |
| ENST00000683153.1:n.4460C= | ||
| ENST00000683365.1:n.4520C= | ||
| ENST00000683377.1:n.4418C= | ||
| ENST00000683456.1:c.*1340C= | ENSP00000508318.1:n.*1340C= | |
| ENST00000683522.1:n.4418C= | ||
| ENST00000683562.1:c.*2372C= | ENSP00000508265.1:n.*2372C= | |
| ENST00000683693.1:n.5983C= | ||
| ENST00000683725.1:c.4203C= | ENSP00000507496.1:p.His1401= | |
| ENST00000684010.1:n.4413C= | ||
| ENST00000684157.1:n.5403C= | ||
| ENST00000684253.1:n.4321C= | ||
| ENST00000684288.1:c.*2375C= | ENSP00000507143.1:n.*2375C= | |
| ENST00000684313.1:n.3850C= | ||
| ENST00000684332.1:n.4491C= | ||
| ENST00000684371.1:n.4524C= | ||
| ENST00000684404.1:n.5446C= | ||
| ENST00000684442.1:n.4642C= | ||
| ENST00000684555.1:c.*2415C= | ENSP00000507705.1:n.*2415C= | |
| ENST00000684571.1:c.4044C= | ENSP00000506935.1:p.His1348= | |
| ENST00000684593.1:c.*3908C= | ENSP00000507005.1:n.*3908C= | |
| ENST00000684711.1:c.*2599C= | ENSP00000506841.1:n.*2599C= | |
| ENST00000302539.9:c.4206C= | ENSP00000303960.4:p.His1402= | |
| ENST00000389817.8:c.4203C= MANE Select | ENSP00000374467.4:p.His1401= | |
| ENST00000642271.1:c.4200C= | ENSP00000493749.1:p.His1400= | |
| ENST00000642579.1:c.2257C= | ||
| ENST00000642611.1:n.5421C= | ||
| ENST00000642902.1:c.3985C= | ||
| ENST00000643260.1:c.4203C= | ENSP00000494450.1:p.His1401= | |
| ENST00000643562.1:c.*2325C= | ENSP00000496124.1:n.*2325C= | |
| ENST00000643925.1:c.2843C= | ||
| ENST00000644057.1:n.280C= | ||
| ENST00000644484.1:c.*3589C= | ENSP00000493558.1:n.*3589C= | |
| ENST00000644675.1:c.*2375C= | ENSP00000494567.1:n.*2375C= | |
| ENST00000644757.1:c.*3202+550C= | ENSP00000495085.1:n.*3202+550C= | |
| ENST00000644772.1:c.4269C= | ENSP00000494321.1:p.His1423= | |
| ENST00000645004.1:n.1896C= | ||
| ENST00000645076.1:c.3402C= | ||
| ENST00000645417.1:c.1391C= | ||
| ENST00000645744.1:c.*3964-76C= | ENSP00000494564.1:n.*3964-76C= | |
| ENST00000645760.1:c.4624C= | ||
| ENST00000645884.1:c.*1486C= | ENSP00000495516.1:n.*1486C= | |
| ENST00000646003.1:c.*2301-76C= | ENSP00000495259.1:n.*2301-76C= | |
| ENST00000646207.1:c.*3040C= | ENSP00000495025.1:n.*3040C= | |
| ENST00000646276.1:c.*3607C= | ENSP00000496070.1:n.*3607C= | |
| ENST00000646592.1:c.3509C= | ||
| ENST00000646902.1:c.4170C= | ENSP00000494101.1:p.His1390= | |
| ENST00000646993.1:c.*2745C= | ENSP00000493720.1:n.*2745C= | |
| ENST00000647013.1:c.4209C= | ENSP00000496741.1:n.4209C= | |
| ENST00000647015.1:c.3954C= | ENSP00000495389.1:p.His1318= | |
| ENST00000647086.1:c.*3789C= | ENSP00000493677.1:n.*3789C= | |
| ENST00000647158.1:c.*2490C= | ENSP00000495744.1:n.*2490C= | |
| ENST00000302539.8:c.4206C= | ENSP00000303960.4:p.His1402= | |
| ENST00000389817.7:c.4203C= | ENSP00000374467.3:p.His1401= | |
| ENST00000525022.1:n.202C= | ||
| ENST00000526037.5:n.67C= | ||
| ENST00000526168.5:c.67-76C= | ||
| ENST00000531642.5:c.39C= | ||
| NM_000352.4:c.4203C= | NP_000343.2:p.His1401= | |
| NM_001287174.1:c.4206C= | NP_001274103.1:p.His1402= | |
| XM_011520331.1:c.4203C= | XP_011518633.1:p.His1401= | |
| XM_011520332.1:c.4206C= | XP_011518634.1:p.His1402= | |
| XM_011520333.1:c.2703C= | XP_011518635.1:p.His901= | |
| XR_930890.1:n.4269C= | ||
| NM_001351295.1:c.4269C= | NP_001338224.1:p.His1423= | |
| NM_001351296.1:c.4203C= | NP_001338225.1:p.His1401= | |
| NM_001351297.1:c.4200C= | NP_001338226.1:p.His1400= | |
| NR_147094.1:n.4498C= | ||
| XM_017018197.2:c.4272C= | XP_016873686.1:p.His1424= | |
| XM_017018199.1:c.4269C= | XP_016873688.1:p.His1423= | |
| XM_017018201.2:c.4272C= | XP_016873690.1:p.His1424= | |
| XM_017018202.1:c.2769C= | XP_016873691.1:p.His923= | |
| XM_017018204.1:c.2160C= | XP_016873693.1:p.His720= | |
| XM_024448668.1:c.2571C= | XP_024304436.1:p.His857= | |
| XR_001747945.2:n.4344C= | ||
| XR_001747946.2:n.4275C= | ||
| XR_002957189.1:n.6058C= | ||
| NM_000352.6:c.4203C= MANE Select | NP_000343.2:p.His1401= | |
| NM_001287174.2:c.4206C= | NP_001274103.1:p.His1402= | |
| NM_001351295.2:c.4269C= | NP_001338224.1:p.His1423= | |
| NM_001351296.2:c.4203C= | NP_001338225.1:p.His1401= | |
| NM_001351297.2:c.4200C= | NP_001338226.1:p.His1400= | |
| NR_147094.2:n.4498C= | ||
| NM_001287174.3:c.4206C= | NP_001274103.1:p.His1402= |