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.17393699C= , CM000673.2:g.17393699C= | GRCh38 |
| NC_000011.9:g.17415246C= , CM000673.1:g.17415246C= | GRCh37 |
| NC_000011.8:g.17371822C= | NCBI36 |
| NG_008867.1:g.88204G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4207G= | ||
| ENST00000526037.6:n.541G= | ||
| ENST00000528374.2:c.1197G= | ||
| ENST00000529967.6:n.2945G= | ||
| ENST00000532220.2:n.3839G= | ||
| ENST00000642611.2:n.5939G= | ||
| ENST00000644057.2:n.1182G= | ||
| ENST00000645004.2:n.2105G= | ||
| ENST00000682051.1:n.4768G= | ||
| ENST00000682110.1:n.4821G= | ||
| ENST00000682140.1:c.*392G= | ENSP00000507829.1:n.*392G= | |
| ENST00000682185.1:n.5911G= | ||
| ENST00000682204.1:c.*2744G= | ENSP00000507094.1:n.*2744G= | |
| ENST00000682215.1:n.5188G= | ||
| ENST00000682288.1:c.*3037G= | ENSP00000507506.1:n.*3037G= | |
| ENST00000682442.1:n.5041G= | ||
| ENST00000682528.1:n.4898G= | ||
| ENST00000682673.1:n.4765G= | ||
| ENST00000682805.1:n.5226G= | ||
| ENST00000682965.1:c.*1028G= | ENSP00000508229.1:n.*1028G= | |
| ENST00000683093.1:n.5801G= | ||
| ENST00000683136.1:c.4489G= | ENSP00000507768.1:p.Ala1497= | |
| ENST00000683153.1:n.4863G= | ||
| ENST00000683365.1:n.4923G= | ||
| ENST00000683377.1:n.4717G= | ||
| ENST00000683456.1:c.*1743G= | ENSP00000508318.1:n.*1743G= | |
| ENST00000683522.1:n.4903G= | ||
| ENST00000683562.1:c.*2671G= | ENSP00000508265.1:n.*2671G= | |
| ENST00000683693.1:n.6282G= | ||
| ENST00000683725.1:c.*71G= | ENSP00000507496.1:n.*71G= | |
| ENST00000684010.1:n.4816G= | ||
| ENST00000684014.1:n.793G= | ||
| ENST00000684157.1:n.5806G= | ||
| ENST00000684253.1:n.4724G= | ||
| ENST00000684288.1:c.*2778G= | ENSP00000507143.1:n.*2778G= | |
| ENST00000684313.1:n.4253G= | ||
| ENST00000684332.1:n.4894G= | ||
| ENST00000684371.1:n.4927G= | ||
| ENST00000684404.1:n.5849G= | ||
| ENST00000684442.1:n.5045G= | ||
| ENST00000684555.1:c.*2818G= | ENSP00000507705.1:n.*2818G= | |
| ENST00000684571.1:c.4447G= | ENSP00000506935.1:p.Ala1483= | |
| ENST00000684593.1:c.*4311G= | ENSP00000507005.1:n.*4311G= | |
| ENST00000684711.1:c.*3002G= | ENSP00000506841.1:n.*3002G= | |
| ENST00000302539.9:c.4609G= | ENSP00000303960.4:p.Ala1537= | |
| ENST00000389817.8:c.4606G= MANE Select | ENSP00000374467.4:p.Ala1536= | |
| ENST00000642271.1:c.4603G= | ENSP00000493749.1:p.Ala1535= | |
| ENST00000642579.1:c.2660G= | ||
| ENST00000642611.1:n.5824G= | ||
| ENST00000642902.1:c.4388G= | ||
| ENST00000643260.1:c.4606G= | ENSP00000494450.1:p.Ala1536= | |
| ENST00000643562.1:c.*2728G= | ENSP00000496124.1:n.*2728G= | |
| ENST00000643925.1:c.3185+567G= | ||
| ENST00000644057.1:n.765G= | ||
| ENST00000644484.1:c.*3992G= | ENSP00000493558.1:n.*3992G= | |
| ENST00000644675.1:c.*2778G= | ENSP00000494567.1:n.*2778G= | |
| ENST00000644757.1:c.*3203-719G= | ENSP00000495085.1:n.*3203-719G= | |
| ENST00000644772.1:c.4672G= | ENSP00000494321.1:p.Ala1558= | |
| ENST00000645004.1:n.2299G= | ||
| ENST00000645076.1:c.3701G= | ||
| ENST00000645417.1:c.1794G= | ||
| ENST00000645744.1:c.*4291G= | ENSP00000494564.1:n.*4291G= | |
| ENST00000645760.1:c.5027G= | ||
| ENST00000645884.1:c.*1889G= | ENSP00000495516.1:n.*1889G= | |
| ENST00000646003.1:c.*2628G= | ENSP00000495259.1:n.*2628G= | |
| ENST00000646207.1:c.*3443G= | ENSP00000495025.1:n.*3443G= | |
| ENST00000646276.1:c.*4010G= | ENSP00000496070.1:n.*4010G= | |
| ENST00000646592.1:c.3912G= | ||
| ENST00000646902.1:c.4573G= | ENSP00000494101.1:p.Ala1525= | |
| ENST00000646993.1:c.*3044G= | ENSP00000493720.1:n.*3044G= | |
| ENST00000647015.1:c.4357G= | ENSP00000495389.1:p.Ala1453= | |
| ENST00000647086.1:c.*4192G= | ENSP00000493677.1:n.*4192G= | |
| ENST00000647158.1:c.*2893G= | ENSP00000495744.1:n.*2893G= | |
| ENST00000302539.8:c.4609G= | ENSP00000303960.4:p.Ala1537= | |
| ENST00000389817.7:c.4606G= | ENSP00000374467.3:p.Ala1536= | |
| ENST00000525022.1:n.501G= | ||
| ENST00000526037.5:n.366G= | ||
| ENST00000526168.5:c.394G= | ||
| ENST00000531642.5:c.637G= | ||
| NM_000352.4:c.4606G= | NP_000343.2:p.Ala1536= | |
| NM_001287174.1:c.4609G= | NP_001274103.1:p.Ala1537= | |
| XM_011520331.1:c.4606G= | XP_011518633.1:p.Ala1536= | |
| XM_011520333.1:c.3106G= | XP_011518635.1:p.Ala1036= | |
| XR_930890.1:n.4568G= | ||
| NM_001351295.1:c.4672G= | NP_001338224.1:p.Ala1558= | |
| NM_001351296.1:c.4606G= | NP_001338225.1:p.Ala1536= | |
| NM_001351297.1:c.4603G= | NP_001338226.1:p.Ala1535= | |
| NR_147094.1:n.4901G= | ||
| XM_017018197.2:c.4675G= | XP_016873686.1:p.Ala1559= | |
| XM_017018199.1:c.4672G= | XP_016873688.1:p.Ala1558= | |
| XM_017018202.1:c.3172G= | XP_016873691.1:p.Ala1058= | |
| XM_017018204.1:c.2563G= | XP_016873693.1:p.Ala855= | |
| XM_024448668.1:c.2974G= | XP_024304436.1:p.Ala992= | |
| XR_001747945.2:n.4643G= | ||
| XR_001747946.2:n.4574G= | ||
| XR_002957189.1:n.6357G= | ||
| NM_000352.6:c.4606G= MANE Select | NP_000343.2:p.Ala1536= | |
| NM_001287174.2:c.4609G= | NP_001274103.1:p.Ala1537= | |
| NM_001351295.2:c.4672G= | NP_001338224.1:p.Ala1558= | |
| NM_001351296.2:c.4606G= | NP_001338225.1:p.Ala1536= | |
| NM_001351297.2:c.4603G= | NP_001338226.1:p.Ala1535= | |
| NR_147094.2:n.4901G= | ||
| NM_001287174.3:c.4609G= | NP_001274103.1:p.Ala1537= |