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.17395718C>T , CM000673.2:g.17395718C>T | GRCh38 |
| NC_000011.9:g.17417265C>T , CM000673.1:g.17417265C>T | GRCh37 |
| NC_000011.8:g.17373841C>T | NCBI36 |
| NG_008867.1:g.86185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3800G>A | ||
| ENST00000528374.2:c.790G>A | ||
| ENST00000529967.6:n.2538G>A | ||
| ENST00000532220.2:n.3432G>A | ||
| ENST00000642611.2:n.5532G>A | ||
| ENST00000644057.2:n.775G>A | ||
| ENST00000645004.2:n.1698G>A | ||
| ENST00000682051.1:n.4361G>A | ||
| ENST00000682110.1:n.4414G>A | ||
| ENST00000682140.1:c.4065G>A | ENSP00000507829.1:p.Arg1355= | |
| ENST00000682185.1:n.5504G>A | ||
| ENST00000682204.1:c.*2337G>A | ENSP00000507094.1:n.*2337G>A | |
| ENST00000682215.1:n.4781G>A | ||
| ENST00000682288.1:c.*2630G>A | ENSP00000507506.1:n.*2630G>A | |
| ENST00000682442.1:n.4634G>A | ||
| ENST00000682528.1:n.4491G>A | ||
| ENST00000682673.1:n.4358G>A | ||
| ENST00000682805.1:n.4819G>A | ||
| ENST00000682965.1:c.*621G>A | ENSP00000508229.1:n.*621G>A | |
| ENST00000683093.1:n.5498G>A | ||
| ENST00000683136.1:c.4082G>A | ENSP00000507768.1:p.Gly1361Glu | |
| ENST00000683153.1:n.4456G>A | ||
| ENST00000683365.1:n.4516G>A | ||
| ENST00000683377.1:n.4414G>A | ||
| ENST00000683456.1:c.*1336G>A | ENSP00000508318.1:n.*1336G>A | |
| ENST00000683522.1:n.4414G>A | ||
| ENST00000683562.1:c.*2368G>A | ENSP00000508265.1:n.*2368G>A | |
| ENST00000683693.1:n.5979G>A | ||
| ENST00000683725.1:c.4199G>A | ENSP00000507496.1:p.Gly1400Glu | |
| ENST00000684010.1:n.4409G>A | ||
| ENST00000684157.1:n.5399G>A | ||
| ENST00000684253.1:n.4317G>A | ||
| ENST00000684288.1:c.*2371G>A | ENSP00000507143.1:n.*2371G>A | |
| ENST00000684313.1:n.3846G>A | ||
| ENST00000684332.1:n.4487G>A | ||
| ENST00000684371.1:n.4520G>A | ||
| ENST00000684404.1:n.5442G>A | ||
| ENST00000684442.1:n.4638G>A | ||
| ENST00000684555.1:c.*2411G>A | ENSP00000507705.1:n.*2411G>A | |
| ENST00000684571.1:c.4040G>A | ENSP00000506935.1:p.Gly1347Glu | |
| ENST00000684593.1:c.*3904G>A | ENSP00000507005.1:n.*3904G>A | |
| ENST00000684711.1:c.*2595G>A | ENSP00000506841.1:n.*2595G>A | |
| ENST00000302539.9:c.4202G>A | ENSP00000303960.4:p.Gly1401Glu | |
| ENST00000389817.8:c.4199G>A MANE Select | ENSP00000374467.4:p.Gly1400Glu | |
| ENST00000642271.1:c.4196G>A | ENSP00000493749.1:p.Gly1399Glu | |
| ENST00000642579.1:c.2253G>A | ||
| ENST00000642611.1:n.5417G>A | ||
| ENST00000642902.1:c.3981G>A | ||
| ENST00000643260.1:c.4199G>A | ENSP00000494450.1:p.Gly1400Glu | |
| ENST00000643562.1:c.*2321G>A | ENSP00000496124.1:n.*2321G>A | |
| ENST00000643925.1:c.2839G>A | ||
| ENST00000644057.1:n.276G>A | ||
| ENST00000644484.1:c.*3585G>A | ENSP00000493558.1:n.*3585G>A | |
| ENST00000644675.1:c.*2371G>A | ENSP00000494567.1:n.*2371G>A | |
| ENST00000644757.1:c.*3202+546G>A | ENSP00000495085.1:n.*3202+546G>A | |
| ENST00000644772.1:c.4265G>A | ENSP00000494321.1:p.Gly1422Glu | |
| ENST00000645004.1:n.1892G>A | ||
| ENST00000645076.1:c.3398G>A | ||
| ENST00000645417.1:c.1387G>A | ||
| ENST00000645744.1:c.*3964-80G>A | ENSP00000494564.1:n.*3964-80G>A | |
| ENST00000645760.1:c.4620G>A | ||
| ENST00000645884.1:c.*1482G>A | ENSP00000495516.1:n.*1482G>A | |
| ENST00000646003.1:c.*2301-80G>A | ENSP00000495259.1:n.*2301-80G>A | |
| ENST00000646207.1:c.*3036G>A | ENSP00000495025.1:n.*3036G>A | |
| ENST00000646276.1:c.*3603G>A | ENSP00000496070.1:n.*3603G>A | |
| ENST00000646592.1:c.3505G>A | ||
| ENST00000646902.1:c.4166G>A | ENSP00000494101.1:p.Gly1389Glu | |
| ENST00000646993.1:c.*2741G>A | ENSP00000493720.1:n.*2741G>A | |
| ENST00000647013.1:c.4205G>A | ENSP00000496741.1:n.4205G>A | |
| ENST00000647015.1:c.3950G>A | ENSP00000495389.1:p.Gly1317Glu | |
| ENST00000647086.1:c.*3785G>A | ENSP00000493677.1:n.*3785G>A | |
| ENST00000647158.1:c.*2486G>A | ENSP00000495744.1:n.*2486G>A | |
| ENST00000302539.8:c.4202G>A | ENSP00000303960.4:p.Gly1401Glu | |
| ENST00000389817.7:c.4199G>A | ENSP00000374467.3:p.Gly1400Glu | |
| ENST00000525022.1:n.198G>A | ||
| ENST00000526037.5:n.63G>A | ||
| ENST00000526168.5:c.67-80G>A | ||
| ENST00000531642.5:c.35G>A | ||
| NM_000352.4:c.4199G>A | NP_000343.2:p.Gly1400Glu | |
| NM_001287174.1:c.4202G>A | NP_001274103.1:p.Gly1401Glu | |
| XM_011520331.1:c.4199G>A | XP_011518633.1:p.Gly1400Glu | |
| XM_011520332.1:c.4202G>A | XP_011518634.1:p.Gly1401Glu | |
| XM_011520333.1:c.2699G>A | XP_011518635.1:p.Gly900Glu | |
| XR_930890.1:n.4265G>A | ||
| NM_001351295.1:c.4265G>A | NP_001338224.1:p.Gly1422Glu | |
| NM_001351296.1:c.4199G>A | NP_001338225.1:p.Gly1400Glu | |
| NM_001351297.1:c.4196G>A | NP_001338226.1:p.Gly1399Glu | |
| NR_147094.1:n.4494G>A | ||
| XM_017018197.2:c.4268G>A | XP_016873686.1:p.Gly1423Glu | |
| XM_017018199.1:c.4265G>A | XP_016873688.1:p.Gly1422Glu | |
| XM_017018201.2:c.4268G>A | XP_016873690.1:p.Gly1423Glu | |
| XM_017018202.1:c.2765G>A | XP_016873691.1:p.Gly922Glu | |
| XM_017018204.1:c.2156G>A | XP_016873693.1:p.Gly719Glu | |
| XM_024448668.1:c.2567G>A | XP_024304436.1:p.Gly856Glu | |
| XR_001747945.2:n.4340G>A | ||
| XR_001747946.2:n.4271G>A | ||
| XR_002957189.1:n.6054G>A | ||
| NM_000352.6:c.4199G>A MANE Select | NP_000343.2:p.Gly1400Glu | |
| NM_001287174.2:c.4202G>A | NP_001274103.1:p.Gly1401Glu | |
| NM_001351295.2:c.4265G>A | NP_001338224.1:p.Gly1422Glu | |
| NM_001351296.2:c.4199G>A | NP_001338225.1:p.Gly1400Glu | |
| NM_001351297.2:c.4196G>A | NP_001338226.1:p.Gly1399Glu | |
| NR_147094.2:n.4494G>A | ||
| NM_001287174.3:c.4202G>A | NP_001274103.1:p.Gly1401Glu |