WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393684A>G , CM000673.2:g.17393684A>G | GRCh38 |
| NC_000011.9:g.17415231A>G , CM000673.1:g.17415231A>G | GRCh37 |
| NC_000011.8:g.17371807A>G | NCBI36 |
| NG_008867.1:g.88219T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4209+13T>C | ||
| ENST00000526037.6:n.543+13T>C | ||
| ENST00000528374.2:c.1199+13T>C | ||
| ENST00000529967.6:n.2947+13T>C | ||
| ENST00000532220.2:n.3841+13T>C | ||
| ENST00000642611.2:n.5941+13T>C | ||
| ENST00000644057.2:n.1184+13T>C | ||
| ENST00000645004.2:n.2107+13T>C | ||
| ENST00000682051.1:n.4770+13T>C | ||
| ENST00000682110.1:n.4823+13T>C | ||
| ENST00000682140.1:c.*394+13T>C | ENSP00000507829.1:n.*394+13T>C | |
| ENST00000682185.1:n.5913+13T>C | ||
| ENST00000682204.1:c.*2746+13T>C | ENSP00000507094.1:n.*2746+13T>C | |
| ENST00000682215.1:n.5190+13T>C | ||
| ENST00000682288.1:c.*3039+13T>C | ENSP00000507506.1:n.*3039+13T>C | |
| ENST00000682442.1:n.5043+13T>C | ||
| ENST00000682528.1:n.4900+13T>C | ||
| ENST00000682673.1:n.4767+13T>C | ||
| ENST00000682805.1:n.5228+13T>C | ||
| ENST00000682965.1:c.*1030+13T>C | ENSP00000508229.1:n.*1030+13T>C | |
| ENST00000683093.1:n.5803+13T>C | ||
| ENST00000683136.1:c.4491+13T>C | ENSP00000507768.1:n.4491+13T>C | |
| ENST00000683153.1:n.4865+13T>C | ||
| ENST00000683365.1:n.4925+13T>C | ||
| ENST00000683377.1:n.4719+13T>C | ||
| ENST00000683456.1:c.*1745+13T>C | ENSP00000508318.1:n.*1745+13T>C | |
| ENST00000683522.1:n.4905+13T>C | ||
| ENST00000683562.1:c.*2673+13T>C | ENSP00000508265.1:n.*2673+13T>C | |
| ENST00000683693.1:n.6284+13T>C | ||
| ENST00000683725.1:c.*73+13T>C | ENSP00000507496.1:n.*73+13T>C | |
| ENST00000684010.1:n.4818+13T>C | ||
| ENST00000684014.1:n.795+13T>C | ||
| ENST00000684157.1:n.5808+13T>C | ||
| ENST00000684253.1:n.4726+13T>C | ||
| ENST00000684288.1:c.*2780+13T>C | ENSP00000507143.1:n.*2780+13T>C | |
| ENST00000684313.1:n.4255+13T>C | ||
| ENST00000684332.1:n.4896+13T>C | ||
| ENST00000684371.1:n.4929+13T>C | ||
| ENST00000684404.1:n.5851+13T>C | ||
| ENST00000684442.1:n.5047+13T>C | ||
| ENST00000684555.1:c.*2820+13T>C | ENSP00000507705.1:n.*2820+13T>C | |
| ENST00000684571.1:c.4449+13T>C | ENSP00000506935.1:n.4449+13T>C | |
| ENST00000684593.1:c.*4313+13T>C | ENSP00000507005.1:n.*4313+13T>C | |
| ENST00000684711.1:c.*3004+13T>C | ENSP00000506841.1:n.*3004+13T>C | |
| ENST00000302539.9:c.4611+13T>C | ENSP00000303960.4:n.4611+13T>C | |
| ENST00000389817.8:c.4608+13T>C MANE Select | ENSP00000374467.4:n.4608+13T>C | |
| ENST00000642271.1:c.4605+13T>C | ENSP00000493749.1:n.4605+13T>C | |
| ENST00000642579.1:c.2662+13T>C | ||
| ENST00000642611.1:n.5826+13T>C | ||
| ENST00000642902.1:c.4390+13T>C | ||
| ENST00000643260.1:c.4608+13T>C | ENSP00000494450.1:n.4608+13T>C | |
| ENST00000643562.1:c.*2730+13T>C | ENSP00000496124.1:n.*2730+13T>C | |
| ENST00000643925.1:c.3186-556T>C | ||
| ENST00000644057.1:n.767+13T>C | ||
| ENST00000644484.1:c.*3994+13T>C | ENSP00000493558.1:n.*3994+13T>C | |
| ENST00000644675.1:c.*2780+13T>C | ENSP00000494567.1:n.*2780+13T>C | |
| ENST00000644757.1:c.*3203-704T>C | ENSP00000495085.1:n.*3203-704T>C | |
| ENST00000644772.1:c.4674+13T>C | ENSP00000494321.1:n.4674+13T>C | |
| ENST00000645004.1:n.2301+13T>C | ||
| ENST00000645076.1:c.3703+13T>C | ||
| ENST00000645417.1:c.1796+13T>C | ||
| ENST00000645744.1:c.*4293+13T>C | ENSP00000494564.1:n.*4293+13T>C | |
| ENST00000645760.1:c.5029+13T>C | ||
| ENST00000645884.1:c.*1891+13T>C | ENSP00000495516.1:n.*1891+13T>C | |
| ENST00000646003.1:c.*2630+13T>C | ENSP00000495259.1:n.*2630+13T>C | |
| ENST00000646207.1:c.*3445+13T>C | ENSP00000495025.1:n.*3445+13T>C | |
| ENST00000646276.1:c.*4012+13T>C | ENSP00000496070.1:n.*4012+13T>C | |
| ENST00000646592.1:c.3914+13T>C | ||
| ENST00000646902.1:c.4575+13T>C | ENSP00000494101.1:n.4575+13T>C | |
| ENST00000646993.1:c.*3046+13T>C | ENSP00000493720.1:n.*3046+13T>C | |
| ENST00000647015.1:c.4359+13T>C | ENSP00000495389.1:n.4359+13T>C | |
| ENST00000647086.1:c.*4194+13T>C | ENSP00000493677.1:n.*4194+13T>C | |
| ENST00000647158.1:c.*2895+13T>C | ENSP00000495744.1:n.*2895+13T>C | |
| ENST00000302539.8:c.4611+13T>C | ENSP00000303960.4:n.4611+13T>C | |
| ENST00000389817.7:c.4608+13T>C | ENSP00000374467.3:n.4608+13T>C | |
| ENST00000525022.1:n.503+13T>C | ||
| ENST00000526037.5:n.368+13T>C | ||
| ENST00000526168.5:c.396+13T>C | ||
| ENST00000531642.5:c.639+13T>C | ||
| NM_000352.4:c.4608+13T>C | NP_000343.2:n.4608+13T>C | |
| NM_001287174.1:c.4611+13T>C | NP_001274103.1:n.4611+13T>C | |
| XM_011520331.1:c.4608+13T>C | XP_011518633.1:n.4608+13T>C | |
| XM_011520333.1:c.3108+13T>C | XP_011518635.1:n.3108+13T>C | |
| XR_930890.1:n.4570+13T>C | ||
| NM_001351295.1:c.4674+13T>C | NP_001338224.1:n.4674+13T>C | |
| NM_001351296.1:c.4608+13T>C | NP_001338225.1:n.4608+13T>C | |
| NM_001351297.1:c.4605+13T>C | NP_001338226.1:n.4605+13T>C | |
| NR_147094.1:n.4903+13T>C | ||
| XM_017018197.2:c.4677+13T>C | XP_016873686.1:n.4677+13T>C | |
| XM_017018199.1:c.4674+13T>C | XP_016873688.1:n.4674+13T>C | |
| XM_017018202.1:c.3174+13T>C | XP_016873691.1:n.3174+13T>C | |
| XM_017018204.1:c.2565+13T>C | XP_016873693.1:n.2565+13T>C | |
| XM_024448668.1:c.2976+13T>C | XP_024304436.1:n.2976+13T>C | |
| XR_001747945.2:n.4645+13T>C | ||
| XR_001747946.2:n.4576+13T>C | ||
| XR_002957189.1:n.6359+13T>C | ||
| NM_000352.6:c.4608+13T>C MANE Select | NP_000343.2:n.4608+13T>C | |
| NM_001287174.2:c.4611+13T>C | NP_001274103.1:n.4611+13T>C | |
| NM_001351295.2:c.4674+13T>C | NP_001338224.1:n.4674+13T>C | |
| NM_001351296.2:c.4608+13T>C | NP_001338225.1:n.4608+13T>C | |
| NM_001351297.2:c.4605+13T>C | NP_001338226.1:n.4605+13T>C | |
| NR_147094.2:n.4903+13T>C | ||
| NM_001287174.3:c.4611+13T>C | NP_001274103.1:n.4611+13T>C |