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_000009.12:g.8389364C>T , CM000671.2:g.8389364C>T | GRCh38 |
| NC_000009.11:g.8389364C>T , CM000671.1:g.8389364C>T | GRCh37 |
| NC_000009.10:g.8379364C>T | NCBI36 |
| NG_033963.1:g.2228360G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381196.9:c.4254G>A MANE Select | ENSP00000370593.3:p.Gly1418= | |
| ENST00000397617.8:c.3042G>A | ENSP00000380741.4:p.Gly1014= | |
| ENST00000651105.1:n.3632G>A | ||
| ENST00000355233.9:c.3036G>A | ENSP00000347373.5:p.Gly1012= | |
| ENST00000356435.9:c.4254G>A | ENSP00000348812.5:p.Gly1418= | |
| ENST00000381196.8:c.4254G>A | ENSP00000370593.3:p.Gly1418= | |
| ENST00000397606.7:c.3033G>A | ENSP00000380731.3:p.Gly1011= | |
| ENST00000397611.7:c.3024G>A | ENSP00000380735.3:p.Gly1008= | |
| ENST00000397617.7:c.3033G>A | ENSP00000380741.3:p.Gly1011= | |
| ENST00000486161.5:c.3033G>A | ENSP00000417093.1:p.Gly1011= | |
| ENST00000537002.5:c.3006G>A | ENSP00000440515.2:p.Gly1002= | |
| ENST00000540109.5:c.4254G>A | ENSP00000438164.1:p.Gly1418= | |
| NM_001040712.2:c.3024G>A | NP_001035802.1:p.Gly1008= | |
| NM_001171025.1:c.3033G>A | NP_001164496.1:p.Gly1011= | |
| NM_002839.3:c.4254G>A | NP_002830.1:p.Gly1418= | |
| NM_130391.3:c.3033G>A | NP_569075.2:p.Gly1011= | |
| NM_130392.3:c.3036G>A | NP_569076.2:p.Gly1012= | |
| NM_130393.3:c.3006G>A | NP_569077.2:p.Gly1002= | |
| XM_006716817.2:c.4305G>A | XP_006716880.1:p.Gly1435= | |
| XM_006716819.2:c.4299G>A | XP_006716882.1:p.Gly1433= | |
| XM_006716823.1:c.4257G>A | XP_006716886.1:p.Gly1419= | |
| XM_006716825.2:c.4254G>A | XP_006716888.1:p.Gly1418= | |
| XM_006716827.2:c.4197G>A | XP_006716890.1:p.Gly1399= | |
| XM_006716832.2:c.3033G>A | XP_006716895.1:p.Gly1011= | |
| XM_006716833.2:c.3033G>A | XP_006716896.1:p.Gly1011= | |
| XM_006716834.2:c.3033G>A | XP_006716897.1:p.Gly1011= | |
| XM_006716835.2:c.3024G>A | XP_006716898.1:p.Gly1008= | |
| XM_006716836.2:c.3021G>A | XP_006716899.1:p.Gly1007= | |
| XM_006716837.2:c.3006G>A | XP_006716900.1:p.Gly1002= | |
| XM_006716838.2:c.3003G>A | XP_006716901.1:p.Gly1001= | |
| XM_006716839.2:c.2991G>A | XP_006716902.1:p.Gly997= | |
| XM_011517980.1:c.4311G>A | XP_011516282.1:p.Gly1437= | |
| XM_011517981.1:c.4311G>A | XP_011516283.1:p.Gly1437= | |
| XM_011517982.1:c.4308G>A | XP_011516284.1:p.Gly1436= | |
| XM_011517983.1:c.4308G>A | XP_011516285.1:p.Gly1436= | |
| XM_011517984.1:c.4302G>A | XP_011516286.1:p.Gly1434= | |
| XM_011517985.1:c.4299G>A | XP_011516287.1:p.Gly1433= | |
| XM_011517986.1:c.4293G>A | XP_011516288.1:p.Gly1431= | |
| XM_011517987.1:c.4284G>A | XP_011516289.1:p.Gly1428= | |
| XM_011517988.1:c.4284G>A | XP_011516290.1:p.Gly1428= | |
| XM_011517989.1:c.4281G>A | XP_011516291.1:p.Gly1427= | |
| XM_011517990.1:c.4272G>A | XP_011516292.1:p.Gly1424= | |
| XM_011517991.1:c.4269G>A | XP_011516293.1:p.Gly1423= | |
| XM_011517992.1:c.4254G>A | XP_011516294.1:p.Gly1418= | |
| XM_011517993.1:c.4227G>A | XP_011516295.1:p.Gly1409= | |
| XM_011517994.1:c.4188G>A | XP_011516296.1:p.Gly1396= | |
| XM_011517995.1:c.3078G>A | XP_011516297.1:p.Gly1026= | |
| XM_011517996.1:c.3075G>A | XP_011516298.1:p.Gly1025= | |
| XM_006716817.4:c.4305G>A | XP_006716880.1:p.Gly1435= | |
| XM_006716823.3:c.4257G>A | XP_006716886.1:p.Gly1419= | |
| XM_006716825.4:c.4254G>A | XP_006716888.1:p.Gly1418= | |
| XM_006716827.4:c.4197G>A | XP_006716890.1:p.Gly1399= | |
| XM_006716832.4:c.3033G>A | XP_006716895.1:p.Gly1011= | |
| XM_006716833.4:c.3033G>A | XP_006716896.1:p.Gly1011= | |
| XM_006716834.4:c.3033G>A | XP_006716897.1:p.Gly1011= | |
| XM_006716835.4:c.3024G>A | XP_006716898.1:p.Gly1008= | |
| XM_006716837.4:c.3006G>A | XP_006716900.1:p.Gly1002= | |
| XM_011517992.3:c.4254G>A | XP_011516294.1:p.Gly1418= | |
| XM_017014958.2:c.4314G>A | XP_016870447.1:p.Gly1438= | |
| XM_017014959.2:c.4314G>A | XP_016870448.1:p.Gly1438= | |
| XM_017014960.2:c.4314G>A | XP_016870449.1:p.Gly1438= | |
| XM_017014961.2:c.4314G>A | XP_016870450.1:p.Gly1438= | |
| XM_017014962.2:c.4314G>A | XP_016870451.1:p.Gly1438= | |
| XM_017014963.2:c.4311G>A | XP_016870452.1:p.Gly1437= | |
| XM_017014964.2:c.4311G>A | XP_016870453.1:p.Gly1437= | |
| XM_017014965.2:c.4311G>A | XP_016870454.1:p.Gly1437= | |
| XM_017014966.2:c.4305G>A | XP_016870455.1:p.Gly1435= | |
| XM_017014967.2:c.4302G>A | XP_016870456.1:p.Gly1434= | |
| XM_017014968.2:c.4299G>A | XP_016870457.1:p.Gly1433= | |
| XM_017014969.2:c.4296G>A | XP_016870458.1:p.Gly1432= | |
| XM_017014970.2:c.4296G>A | XP_016870459.1:p.Gly1432= | |
| XM_017014971.2:c.4287G>A | XP_016870460.1:p.Gly1429= | |
| XM_017014972.2:c.4287G>A | XP_016870461.1:p.Gly1429= | |
| XM_017014973.2:c.4284G>A | XP_016870462.1:p.Gly1428= | |
| XM_017014974.2:c.4284G>A | XP_016870463.1:p.Gly1428= | |
| XM_017014975.2:c.4275G>A | XP_016870464.1:p.Gly1425= | |
| XM_017014976.2:c.4272G>A | XP_016870465.1:p.Gly1424= | |
| XM_017014977.2:c.4272G>A | XP_016870466.1:p.Gly1424= | |
| XM_017014978.2:c.4269G>A | XP_016870467.1:p.Gly1423= | |
| XM_017014979.2:c.4266G>A | XP_016870468.1:p.Gly1422= | |
| XM_017014980.2:c.4227G>A | XP_016870469.1:p.Gly1409= | |
| XM_017014981.2:c.4188G>A | XP_016870470.1:p.Gly1396= | |
| XM_017014982.2:c.3081G>A | XP_016870471.1:p.Gly1027= | |
| XM_017014983.2:c.3078G>A | XP_016870472.1:p.Gly1026= | |
| XM_017014984.2:c.3069G>A | XP_016870473.1:p.Gly1023= | |
| XM_017014985.2:c.3066G>A | XP_016870474.1:p.Gly1022= | |
| XM_017014986.2:c.3063G>A | XP_016870475.1:p.Gly1021= | |
| XM_017014987.2:c.3048G>A | XP_016870476.1:p.Gly1016= | |
| XM_017014988.2:c.3045G>A | XP_016870477.1:p.Gly1015= | |
| XM_017014989.2:c.3039G>A | XP_016870478.1:p.Gly1013= | |
| XM_017014990.2:c.3036G>A | XP_016870479.1:p.Gly1012= | |
| XM_017014991.2:c.3036G>A | XP_016870480.1:p.Gly1012= | |
| XM_017014992.2:c.3027G>A | XP_016870481.1:p.Gly1009= | |
| XM_017014993.2:c.3024G>A | XP_016870482.1:p.Gly1008= | |
| XM_017014994.2:c.3021G>A | XP_016870483.1:p.Gly1007= | |
| XM_017014995.2:c.3021G>A | XP_016870484.1:p.Gly1007= | |
| XM_024447625.1:c.4293G>A | XP_024303393.1:p.Gly1431= | |
| XM_024447627.1:c.2052G>A | XP_024303395.1:p.Gly684= | |
| NM_002839.4:c.4254G>A MANE Select | NP_002830.1:p.Gly1418= | |
| NM_001171025.2:c.3033G>A | NP_001164496.1:p.Gly1011= | |
| NM_001377946.1:c.3045G>A | NP_001364875.1:p.Gly1015= | |
| NM_001377947.1:c.3015G>A | NP_001364876.1:p.Gly1005= | |
| NM_001377958.1:c.4314G>A | NP_001364887.1:p.Gly1438= | |
| NM_001378058.1:c.4269G>A | NP_001364987.1:p.Gly1423= | |
| NM_130391.4:c.3033G>A | NP_569075.2:p.Gly1011= |