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.17395709A>T , CM000673.2:g.17395709A>T | GRCh38 |
| NC_000011.9:g.17417256A>T , CM000673.1:g.17417256A>T | GRCh37 |
| NC_000011.8:g.17373832A>T | NCBI36 |
| NG_008867.1:g.86194T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3809T>A | ||
| ENST00000528374.2:c.799T>A | ||
| ENST00000529967.6:n.2547T>A | ||
| ENST00000532220.2:n.3441T>A | ||
| ENST00000642611.2:n.5541T>A | ||
| ENST00000644057.2:n.784T>A | ||
| ENST00000645004.2:n.1707T>A | ||
| ENST00000682051.1:n.4370T>A | ||
| ENST00000682110.1:n.4423T>A | ||
| ENST00000682140.1:c.4074T>A | ENSP00000507829.1:p.His1358Gln | |
| ENST00000682185.1:n.5513T>A | ||
| ENST00000682204.1:c.*2346T>A | ENSP00000507094.1:n.*2346T>A | |
| ENST00000682215.1:n.4790T>A | ||
| ENST00000682288.1:c.*2639T>A | ENSP00000507506.1:n.*2639T>A | |
| ENST00000682442.1:n.4643T>A | ||
| ENST00000682528.1:n.4500T>A | ||
| ENST00000682673.1:n.4367T>A | ||
| ENST00000682805.1:n.4828T>A | ||
| ENST00000682965.1:c.*630T>A | ENSP00000508229.1:n.*630T>A | |
| ENST00000683093.1:n.5507T>A | ||
| ENST00000683136.1:c.4091T>A | ENSP00000507768.1:p.Ile1364Asn | |
| ENST00000683153.1:n.4465T>A | ||
| ENST00000683365.1:n.4525T>A | ||
| ENST00000683377.1:n.4423T>A | ||
| ENST00000683456.1:c.*1345T>A | ENSP00000508318.1:n.*1345T>A | |
| ENST00000683522.1:n.4423T>A | ||
| ENST00000683562.1:c.*2377T>A | ENSP00000508265.1:n.*2377T>A | |
| ENST00000683693.1:n.5988T>A | ||
| ENST00000683725.1:c.4208T>A | ENSP00000507496.1:p.Ile1403Asn | |
| ENST00000684010.1:n.4418T>A | ||
| ENST00000684157.1:n.5408T>A | ||
| ENST00000684253.1:n.4326T>A | ||
| ENST00000684288.1:c.*2380T>A | ENSP00000507143.1:n.*2380T>A | |
| ENST00000684313.1:n.3855T>A | ||
| ENST00000684332.1:n.4496T>A | ||
| ENST00000684371.1:n.4529T>A | ||
| ENST00000684404.1:n.5451T>A | ||
| ENST00000684442.1:n.4647T>A | ||
| ENST00000684555.1:c.*2420T>A | ENSP00000507705.1:n.*2420T>A | |
| ENST00000684571.1:c.4049T>A | ENSP00000506935.1:p.Ile1350Asn | |
| ENST00000684593.1:c.*3913T>A | ENSP00000507005.1:n.*3913T>A | |
| ENST00000684711.1:c.*2604T>A | ENSP00000506841.1:n.*2604T>A | |
| ENST00000302539.9:c.4211T>A | ENSP00000303960.4:p.Ile1404Asn | |
| ENST00000389817.8:c.4208T>A MANE Select | ENSP00000374467.4:p.Ile1403Asn | |
| ENST00000642271.1:c.4205T>A | ENSP00000493749.1:p.Ile1402Asn | |
| ENST00000642579.1:c.2262T>A | ||
| ENST00000642611.1:n.5426T>A | ||
| ENST00000642902.1:c.3990T>A | ||
| ENST00000643260.1:c.4208T>A | ENSP00000494450.1:p.Ile1403Asn | |
| ENST00000643562.1:c.*2330T>A | ENSP00000496124.1:n.*2330T>A | |
| ENST00000643925.1:c.2848T>A | ||
| ENST00000644057.1:n.285T>A | ||
| ENST00000644484.1:c.*3594T>A | ENSP00000493558.1:n.*3594T>A | |
| ENST00000644675.1:c.*2380T>A | ENSP00000494567.1:n.*2380T>A | |
| ENST00000644757.1:c.*3202+555T>A | ENSP00000495085.1:n.*3202+555T>A | |
| ENST00000644772.1:c.4274T>A | ENSP00000494321.1:p.Ile1425Asn | |
| ENST00000645004.1:n.1901T>A | ||
| ENST00000645076.1:c.3407T>A | ||
| ENST00000645417.1:c.1396T>A | ||
| ENST00000645744.1:c.*3964-71T>A | ENSP00000494564.1:n.*3964-71T>A | |
| ENST00000645760.1:c.4629T>A | ||
| ENST00000645884.1:c.*1491T>A | ENSP00000495516.1:n.*1491T>A | |
| ENST00000646003.1:c.*2301-71T>A | ENSP00000495259.1:n.*2301-71T>A | |
| ENST00000646207.1:c.*3045T>A | ENSP00000495025.1:n.*3045T>A | |
| ENST00000646276.1:c.*3612T>A | ENSP00000496070.1:n.*3612T>A | |
| ENST00000646592.1:c.3514T>A | ||
| ENST00000646902.1:c.4175T>A | ENSP00000494101.1:p.Ile1392Asn | |
| ENST00000646993.1:c.*2750T>A | ENSP00000493720.1:n.*2750T>A | |
| ENST00000647013.1:c.4214T>A | ENSP00000496741.1:n.4214T>A | |
| ENST00000647015.1:c.3959T>A | ENSP00000495389.1:p.Ile1320Asn | |
| ENST00000647086.1:c.*3794T>A | ENSP00000493677.1:n.*3794T>A | |
| ENST00000647158.1:c.*2495T>A | ENSP00000495744.1:n.*2495T>A | |
| ENST00000302539.8:c.4211T>A | ENSP00000303960.4:p.Ile1404Asn | |
| ENST00000389817.7:c.4208T>A | ENSP00000374467.3:p.Ile1403Asn | |
| ENST00000525022.1:n.207T>A | ||
| ENST00000526037.5:n.72T>A | ||
| ENST00000526168.5:c.67-71T>A | ||
| ENST00000531642.5:c.44T>A | ||
| NM_000352.4:c.4208T>A | NP_000343.2:p.Ile1403Asn | |
| NM_001287174.1:c.4211T>A | NP_001274103.1:p.Ile1404Asn | |
| XM_011520331.1:c.4208T>A | XP_011518633.1:p.Ile1403Asn | |
| XM_011520332.1:c.4211T>A | XP_011518634.1:p.Ile1404Asn | |
| XM_011520333.1:c.2708T>A | XP_011518635.1:p.Ile903Asn | |
| XR_930890.1:n.4274T>A | ||
| NM_001351295.1:c.4274T>A | NP_001338224.1:p.Ile1425Asn | |
| NM_001351296.1:c.4208T>A | NP_001338225.1:p.Ile1403Asn | |
| NM_001351297.1:c.4205T>A | NP_001338226.1:p.Ile1402Asn | |
| NR_147094.1:n.4503T>A | ||
| XM_017018197.2:c.4277T>A | XP_016873686.1:p.Ile1426Asn | |
| XM_017018199.1:c.4274T>A | XP_016873688.1:p.Ile1425Asn | |
| XM_017018201.2:c.4277T>A | XP_016873690.1:p.Ile1426Asn | |
| XM_017018202.1:c.2774T>A | XP_016873691.1:p.Ile925Asn | |
| XM_017018204.1:c.2165T>A | XP_016873693.1:p.Ile722Asn | |
| XM_024448668.1:c.2576T>A | XP_024304436.1:p.Ile859Asn | |
| XR_001747945.2:n.4349T>A | ||
| XR_001747946.2:n.4280T>A | ||
| XR_002957189.1:n.6063T>A | ||
| NM_000352.6:c.4208T>A MANE Select | NP_000343.2:p.Ile1403Asn | |
| NM_001287174.2:c.4211T>A | NP_001274103.1:p.Ile1404Asn | |
| NM_001351295.2:c.4274T>A | NP_001338224.1:p.Ile1425Asn | |
| NM_001351296.2:c.4208T>A | NP_001338225.1:p.Ile1403Asn | |
| NM_001351297.2:c.4205T>A | NP_001338226.1:p.Ile1402Asn | |
| NR_147094.2:n.4503T>A | ||
| NM_001287174.3:c.4211T>A | NP_001274103.1:p.Ile1404Asn |