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_000002.12:g.127048588G>T , CM000664.2:g.127048588G>T | GRCh38 |
| NC_000002.11:g.127806164G>T , CM000664.1:g.127806164G>T | GRCh37 |
| NC_000002.10:g.127522634G>T | NCBI36 |
| NG_012042.1:g.63701C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352848.8:c.1303C>A | ENSP00000315284.4:p.His435Asn | |
| ENST00000316724.10:c.1720C>A MANE Select | ENSP00000316779.5:p.His574Asn | |
| ENST00000259238.8:c.1432C>A | ENSP00000259238.4:p.His478Asn | |
| ENST00000316724.9:c.1720C>A | ENSP00000316779.5:p.His574Asn | |
| ENST00000346226.7:c.1495C>A | ENSP00000315411.3:p.His499Asn | |
| ENST00000348750.8:c.1168C>A | ENSP00000259237.5:p.His390Asn | |
| ENST00000351659.7:c.1459C>A | ENSP00000315388.3:p.His487Asn | |
| ENST00000352848.7:c.1303C>A | ENSP00000315284.4:p.His435Asn | |
| ENST00000357970.7:c.1591C>A | ENSP00000350654.3:p.His531Asn | |
| ENST00000376113.6:c.1213C>A | ENSP00000365281.2:p.His405Asn | |
| ENST00000393040.7:c.1387C>A | ENSP00000376760.3:p.His463Asn | |
| ENST00000393041.7:c.1366C>A | ENSP00000376761.3:p.His456Asn | |
| ENST00000409400.1:c.1258C>A | ENSP00000386797.1:p.His420Asn | |
| ENST00000462958.5:n.4586C>A | ||
| NM_004305.3:c.1303C>A | NP_004296.1:p.His435Asn | |
| NM_139343.2:c.1720C>A | NP_647593.1:p.His574Asn | |
| NM_139344.2:c.1591C>A | NP_647594.1:p.His531Asn | |
| NM_139345.2:c.1459C>A | NP_647595.1:p.His487Asn | |
| NM_139346.2:c.1432C>A | NP_647596.1:p.His478Asn | |
| NM_139347.2:c.1495C>A | NP_647597.1:p.His499Asn | |
| NM_139348.2:c.1387C>A | NP_647598.1:p.His463Asn | |
| NM_139349.2:c.1366C>A | NP_647599.1:p.His456Asn | |
| NM_139350.2:c.1258C>A | NP_647600.1:p.His420Asn | |
| NM_139351.2:c.1168C>A | NP_647601.1:p.His390Asn | |
| XM_005263642.2:c.1765C>A | XP_005263699.1:p.His589Asn | |
| XM_005263643.2:c.1672C>A | XP_005263700.1:p.His558Asn | |
| XM_005263644.2:c.1627C>A | XP_005263701.1:p.His543Asn | |
| XM_005263645.1:c.1600C>A | XP_005263702.1:p.His534Asn | |
| XM_005263646.2:c.1351C>A | XP_005263703.1:p.His451Asn | |
| XM_005263647.2:c.1213C>A | XP_005263704.1:p.His405Asn | |
| XM_005263648.1:c.1096C>A | XP_005263705.1:p.His366Asn | |
| XM_006712425.2:c.1633C>A | XP_006712488.1:p.His545Asn | |
| XM_006712426.2:c.1633C>A | XP_006712489.1:p.His545Asn | |
| XM_006712427.1:c.1555C>A | XP_006712490.1:p.His519Asn | |
| XM_006712428.2:c.1525C>A | XP_006712491.1:p.His509Asn | |
| XM_006712429.2:c.1504C>A | XP_006712492.1:p.His502Asn | |
| XM_006712430.2:c.1480C>A | XP_006712493.1:p.His494Asn | |
| XM_006712431.2:c.1435C>A | XP_006712494.1:p.His479Asn | |
| XM_006712432.2:c.1396C>A | XP_006712495.1:p.His466Asn | |
| XM_006712433.2:c.1306C>A | XP_006712496.1:p.His436Asn | |
| XM_006712434.2:c.1261C>A | XP_006712497.1:p.His421Asn | |
| XM_011510975.1:c.1684C>A | XP_011509277.1:p.His562Asn | |
| NM_001320632.1:c.1213C>A | NP_001307561.1:p.His405Asn | |
| NM_001320633.1:c.1351C>A | NP_001307562.1:p.His451Asn | |
| NM_001320634.1:c.1096C>A | NP_001307563.1:p.His366Asn | |
| NM_001320640.1:c.1480C>A | NP_001307569.1:p.His494Asn | |
| NM_001320641.1:c.1627C>A | NP_001307570.1:p.His543Asn | |
| NM_001320642.1:c.1639C>A | NP_001307571.1:p.His547Asn | |
| XM_005263642.4:c.1765C>A | XP_005263699.1:p.His589Asn | |
| XM_005263643.4:c.1672C>A | XP_005263700.1:p.His558Asn | |
| XM_005263645.2:c.1600C>A | XP_005263702.1:p.His534Asn | |
| XM_006712425.4:c.1633C>A | XP_006712488.1:p.His545Asn | |
| XM_006712426.4:c.1633C>A | XP_006712489.1:p.His545Asn | |
| XM_006712427.2:c.1555C>A | XP_006712490.1:p.His519Asn | |
| XM_006712428.4:c.1525C>A | XP_006712491.1:p.His509Asn | |
| XM_006712429.4:c.1504C>A | XP_006712492.1:p.His502Asn | |
| XM_006712431.4:c.1435C>A | XP_006712494.1:p.His479Asn | |
| XM_006712432.4:c.1396C>A | XP_006712495.1:p.His466Asn | |
| XM_006712433.4:c.1306C>A | XP_006712496.1:p.His436Asn | |
| XM_006712434.4:c.1261C>A | XP_006712497.1:p.His421Asn | |
| XM_011510975.3:c.1684C>A | XP_011509277.1:p.His562Asn | |
| XM_017003819.1:c.1693C>A | XP_016859308.1:p.His565Asn | |
| XM_017003820.2:c.1495C>A | XP_016859309.1:p.His499Asn | |
| XM_017003821.2:c.1390C>A | XP_016859310.1:p.His464Asn | |
| XM_017003822.2:c.1297C>A | XP_016859311.1:p.His433Asn | |
| XM_017003823.1:c.1294C>A | XP_016859312.1:p.His432Asn | |
| XM_017003824.1:c.1225C>A | XP_016859313.1:p.His409Asn | |
| XM_017003825.1:c.1189C>A | XP_016859314.1:p.His397Asn | |
| XM_017003826.1:c.1186C>A | XP_016859315.1:p.His396Asn | |
| XM_017003827.2:c.1093C>A | XP_016859316.1:p.His365Asn | |
| XM_017003828.2:c.1048C>A | XP_016859317.1:p.His350Asn | |
| NM_139343.3:c.1720C>A MANE Select | NP_647593.1:p.His574Asn | |
| NM_001320632.2:c.1213C>A | NP_001307561.1:p.His405Asn | |
| NM_001320633.2:c.1351C>A | NP_001307562.1:p.His451Asn | |
| NM_001320640.2:c.1480C>A | NP_001307569.1:p.His494Asn | |
| NM_001320641.2:c.1627C>A | NP_001307570.1:p.His543Asn | |
| NM_004305.4:c.1303C>A | NP_004296.1:p.His435Asn | |
| NM_139344.3:c.1591C>A | NP_647594.1:p.His531Asn | |
| NM_139345.3:c.1459C>A | NP_647595.1:p.His487Asn | |
| NM_139346.3:c.1432C>A | NP_647596.1:p.His478Asn | |
| NM_139347.3:c.1495C>A | NP_647597.1:p.His499Asn | |
| NM_139348.3:c.1387C>A | NP_647598.1:p.His463Asn | |
| NM_139349.3:c.1366C>A | NP_647599.1:p.His456Asn | |
| NM_139350.3:c.1258C>A | NP_647600.1:p.His420Asn | |
| NM_139351.3:c.1168C>A | NP_647601.1:p.His390Asn |