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.17394374C>G , CM000673.2:g.17394374C>G | GRCh38 |
| NC_000011.9:g.17415921C>G , CM000673.1:g.17415921C>G | GRCh37 |
| NC_000011.8:g.17372497C>G | NCBI36 |
| NG_008867.1:g.87529G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4038G>C | ||
| ENST00000526037.6:n.372G>C | ||
| ENST00000528374.2:c.1028G>C | ||
| ENST00000529967.6:n.2776G>C | ||
| ENST00000532220.2:n.3670G>C | ||
| ENST00000642611.2:n.5770G>C | ||
| ENST00000644057.2:n.1013G>C | ||
| ENST00000645004.2:n.1936G>C | ||
| ENST00000682051.1:n.4599G>C | ||
| ENST00000682110.1:n.4652G>C | ||
| ENST00000682140.1:c.*223G>C | ENSP00000507829.1:n.*223G>C | |
| ENST00000682185.1:n.5742G>C | ||
| ENST00000682204.1:c.*2575G>C | ENSP00000507094.1:n.*2575G>C | |
| ENST00000682215.1:n.5019G>C | ||
| ENST00000682288.1:c.*2868G>C | ENSP00000507506.1:n.*2868G>C | |
| ENST00000682442.1:n.4872G>C | ||
| ENST00000682528.1:n.4729G>C | ||
| ENST00000682673.1:n.4596G>C | ||
| ENST00000682805.1:n.5057G>C | ||
| ENST00000682965.1:c.*859G>C | ENSP00000508229.1:n.*859G>C | |
| ENST00000683093.1:n.5632G>C | ||
| ENST00000683136.1:c.4320G>C | ENSP00000507768.1:p.Glu1440Asp | |
| ENST00000683153.1:n.4694G>C | ||
| ENST00000683365.1:n.4754G>C | ||
| ENST00000683377.1:n.4548G>C | ||
| ENST00000683456.1:c.*1574G>C | ENSP00000508318.1:n.*1574G>C | |
| ENST00000683522.1:n.4734G>C | ||
| ENST00000683562.1:c.*2502G>C | ENSP00000508265.1:n.*2502G>C | |
| ENST00000683693.1:n.6113G>C | ||
| ENST00000683725.1:c.4333G>C | ENSP00000507496.1:p.Glu1445Gln | |
| ENST00000684010.1:n.4647G>C | ||
| ENST00000684014.1:n.624G>C | ||
| ENST00000684157.1:n.5637G>C | ||
| ENST00000684253.1:n.4555G>C | ||
| ENST00000684288.1:c.*2609G>C | ENSP00000507143.1:n.*2609G>C | |
| ENST00000684313.1:n.4084G>C | ||
| ENST00000684332.1:n.4725G>C | ||
| ENST00000684371.1:n.4758G>C | ||
| ENST00000684404.1:n.5680G>C | ||
| ENST00000684442.1:n.4876G>C | ||
| ENST00000684555.1:c.*2649G>C | ENSP00000507705.1:n.*2649G>C | |
| ENST00000684571.1:c.4278G>C | ENSP00000506935.1:p.Glu1426Asp | |
| ENST00000684593.1:c.*4142G>C | ENSP00000507005.1:n.*4142G>C | |
| ENST00000684711.1:c.*2833G>C | ENSP00000506841.1:n.*2833G>C | |
| ENST00000302539.9:c.4440G>C | ENSP00000303960.4:p.Glu1480Asp | |
| ENST00000389817.8:c.4437G>C MANE Select | ENSP00000374467.4:p.Glu1479Asp | |
| ENST00000642271.1:c.4434G>C | ENSP00000493749.1:p.Glu1478Asp | |
| ENST00000642579.1:c.2491G>C | ||
| ENST00000642611.1:n.5655G>C | ||
| ENST00000642902.1:c.4219G>C | ||
| ENST00000643260.1:c.4437G>C | ENSP00000494450.1:p.Glu1479Asp | |
| ENST00000643562.1:c.*2559G>C | ENSP00000496124.1:n.*2559G>C | |
| ENST00000643925.1:c.3077G>C | ||
| ENST00000644057.1:n.596G>C | ||
| ENST00000644484.1:c.*3823G>C | ENSP00000493558.1:n.*3823G>C | |
| ENST00000644675.1:c.*2609G>C | ENSP00000494567.1:n.*2609G>C | |
| ENST00000644757.1:c.*3203-1394G>C | ENSP00000495085.1:n.*3203-1394G>C | |
| ENST00000644772.1:c.4503G>C | ENSP00000494321.1:p.Glu1501Asp | |
| ENST00000645004.1:n.2130G>C | ||
| ENST00000645076.1:c.3532G>C | ||
| ENST00000645417.1:c.1625G>C | ||
| ENST00000645744.1:c.*4122G>C | ENSP00000494564.1:n.*4122G>C | |
| ENST00000645760.1:c.4858G>C | ||
| ENST00000645884.1:c.*1720G>C | ENSP00000495516.1:n.*1720G>C | |
| ENST00000646003.1:c.*2459G>C | ENSP00000495259.1:n.*2459G>C | |
| ENST00000646207.1:c.*3274G>C | ENSP00000495025.1:n.*3274G>C | |
| ENST00000646276.1:c.*3841G>C | ENSP00000496070.1:n.*3841G>C | |
| ENST00000646592.1:c.3743G>C | ||
| ENST00000646902.1:c.4404G>C | ENSP00000494101.1:p.Glu1468Asp | |
| ENST00000646993.1:c.*2875G>C | ENSP00000493720.1:n.*2875G>C | |
| ENST00000647013.1:c.4443G>C | ENSP00000496741.1:n.4443G>C | |
| ENST00000647015.1:c.4188G>C | ENSP00000495389.1:p.Glu1396Asp | |
| ENST00000647086.1:c.*4023G>C | ENSP00000493677.1:n.*4023G>C | |
| ENST00000647158.1:c.*2724G>C | ENSP00000495744.1:n.*2724G>C | |
| ENST00000302539.8:c.4440G>C | ENSP00000303960.4:p.Glu1480Asp | |
| ENST00000389817.7:c.4437G>C | ENSP00000374467.3:p.Glu1479Asp | |
| ENST00000525022.1:n.332G>C | ||
| ENST00000526037.5:n.197G>C | ||
| ENST00000526168.5:c.225G>C | ||
| ENST00000531642.5:c.468G>C | ||
| NM_000352.4:c.4437G>C | NP_000343.2:p.Glu1479Asp | |
| NM_001287174.1:c.4440G>C | NP_001274103.1:p.Glu1480Asp | |
| XM_011520331.1:c.4437G>C | XP_011518633.1:p.Glu1479Asp | |
| XM_011520332.1:c.4336G>C | XP_011518634.1:p.Glu1446Gln | |
| XM_011520333.1:c.2937G>C | XP_011518635.1:p.Glu979Asp | |
| XR_930890.1:n.4399G>C | ||
| NM_001351295.1:c.4503G>C | NP_001338224.1:p.Glu1501Asp | |
| NM_001351296.1:c.4437G>C | NP_001338225.1:p.Glu1479Asp | |
| NM_001351297.1:c.4434G>C | NP_001338226.1:p.Glu1478Asp | |
| NR_147094.1:n.4732G>C | ||
| XM_017018197.2:c.4506G>C | XP_016873686.1:p.Glu1502Asp | |
| XM_017018199.1:c.4503G>C | XP_016873688.1:p.Glu1501Asp | |
| XM_017018201.2:c.4402G>C | XP_016873690.1:p.Glu1468Gln | |
| XM_017018202.1:c.3003G>C | XP_016873691.1:p.Glu1001Asp | |
| XM_017018204.1:c.2394G>C | XP_016873693.1:p.Glu798Asp | |
| XM_024448668.1:c.2805G>C | XP_024304436.1:p.Glu935Asp | |
| XR_001747945.2:n.4474G>C | ||
| XR_001747946.2:n.4405G>C | ||
| XR_002957189.1:n.6188G>C | ||
| NM_000352.6:c.4437G>C MANE Select | NP_000343.2:p.Glu1479Asp | |
| NM_001287174.2:c.4440G>C | NP_001274103.1:p.Glu1480Asp | |
| NM_001351295.2:c.4503G>C | NP_001338224.1:p.Glu1501Asp | |
| NM_001351296.2:c.4437G>C | NP_001338225.1:p.Glu1479Asp | |
| NM_001351297.2:c.4434G>C | NP_001338226.1:p.Glu1478Asp | |
| NR_147094.2:n.4732G>C | ||
| NM_001287174.3:c.4440G>C | NP_001274103.1:p.Glu1480Asp |