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.127048591G>T , CM000664.2:g.127048591G>T | GRCh38 |
| NC_000002.11:g.127806167G>T , CM000664.1:g.127806167G>T | GRCh37 |
| NC_000002.10:g.127522637G>T | NCBI36 |
| NG_012042.1:g.63698C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352848.8:c.1300C>A | ENSP00000315284.4:p.Gln434Lys | |
| ENST00000316724.10:c.1717C>A MANE Select | ENSP00000316779.5:p.Gln573Lys | |
| ENST00000259238.8:c.1429C>A | ENSP00000259238.4:p.Gln477Lys | |
| ENST00000316724.9:c.1717C>A | ENSP00000316779.5:p.Gln573Lys | |
| ENST00000346226.7:c.1492C>A | ENSP00000315411.3:p.Gln498Lys | |
| ENST00000348750.8:c.1165C>A | ENSP00000259237.5:p.Gln389Lys | |
| ENST00000351659.7:c.1456C>A | ENSP00000315388.3:p.Gln486Lys | |
| ENST00000352848.7:c.1300C>A | ENSP00000315284.4:p.Gln434Lys | |
| ENST00000357970.7:c.1588C>A | ENSP00000350654.3:p.Gln530Lys | |
| ENST00000376113.6:c.1210C>A | ENSP00000365281.2:p.Gln404Lys | |
| ENST00000393040.7:c.1384C>A | ENSP00000376760.3:p.Gln462Lys | |
| ENST00000393041.7:c.1363C>A | ENSP00000376761.3:p.Gln455Lys | |
| ENST00000409400.1:c.1255C>A | ENSP00000386797.1:p.Gln419Lys | |
| ENST00000462958.5:n.4583C>A | ||
| NM_004305.3:c.1300C>A | NP_004296.1:p.Gln434Lys | |
| NM_139343.2:c.1717C>A | NP_647593.1:p.Gln573Lys | |
| NM_139344.2:c.1588C>A | NP_647594.1:p.Gln530Lys | |
| NM_139345.2:c.1456C>A | NP_647595.1:p.Gln486Lys | |
| NM_139346.2:c.1429C>A | NP_647596.1:p.Gln477Lys | |
| NM_139347.2:c.1492C>A | NP_647597.1:p.Gln498Lys | |
| NM_139348.2:c.1384C>A | NP_647598.1:p.Gln462Lys | |
| NM_139349.2:c.1363C>A | NP_647599.1:p.Gln455Lys | |
| NM_139350.2:c.1255C>A | NP_647600.1:p.Gln419Lys | |
| NM_139351.2:c.1165C>A | NP_647601.1:p.Gln389Lys | |
| XM_005263642.2:c.1762C>A | XP_005263699.1:p.Gln588Lys | |
| XM_005263643.2:c.1669C>A | XP_005263700.1:p.Gln557Lys | |
| XM_005263644.2:c.1624C>A | XP_005263701.1:p.Gln542Lys | |
| XM_005263645.1:c.1597C>A | XP_005263702.1:p.Gln533Lys | |
| XM_005263646.2:c.1348C>A | XP_005263703.1:p.Gln450Lys | |
| XM_005263647.2:c.1210C>A | XP_005263704.1:p.Gln404Lys | |
| XM_005263648.1:c.1093C>A | XP_005263705.1:p.Gln365Lys | |
| XM_006712425.2:c.1630C>A | XP_006712488.1:p.Gln544Lys | |
| XM_006712426.2:c.1630C>A | XP_006712489.1:p.Gln544Lys | |
| XM_006712427.1:c.1552C>A | XP_006712490.1:p.Gln518Lys | |
| XM_006712428.2:c.1522C>A | XP_006712491.1:p.Gln508Lys | |
| XM_006712429.2:c.1501C>A | XP_006712492.1:p.Gln501Lys | |
| XM_006712430.2:c.1477C>A | XP_006712493.1:p.Gln493Lys | |
| XM_006712431.2:c.1432C>A | XP_006712494.1:p.Gln478Lys | |
| XM_006712432.2:c.1393C>A | XP_006712495.1:p.Gln465Lys | |
| XM_006712433.2:c.1303C>A | XP_006712496.1:p.Gln435Lys | |
| XM_006712434.2:c.1258C>A | XP_006712497.1:p.Gln420Lys | |
| XM_011510975.1:c.1681C>A | XP_011509277.1:p.Gln561Lys | |
| NM_001320632.1:c.1210C>A | NP_001307561.1:p.Gln404Lys | |
| NM_001320633.1:c.1348C>A | NP_001307562.1:p.Gln450Lys | |
| NM_001320634.1:c.1093C>A | NP_001307563.1:p.Gln365Lys | |
| NM_001320640.1:c.1477C>A | NP_001307569.1:p.Gln493Lys | |
| NM_001320641.1:c.1624C>A | NP_001307570.1:p.Gln542Lys | |
| NM_001320642.1:c.1636C>A | NP_001307571.1:p.Gln546Lys | |
| XM_005263642.4:c.1762C>A | XP_005263699.1:p.Gln588Lys | |
| XM_005263643.4:c.1669C>A | XP_005263700.1:p.Gln557Lys | |
| XM_005263645.2:c.1597C>A | XP_005263702.1:p.Gln533Lys | |
| XM_006712425.4:c.1630C>A | XP_006712488.1:p.Gln544Lys | |
| XM_006712426.4:c.1630C>A | XP_006712489.1:p.Gln544Lys | |
| XM_006712427.2:c.1552C>A | XP_006712490.1:p.Gln518Lys | |
| XM_006712428.4:c.1522C>A | XP_006712491.1:p.Gln508Lys | |
| XM_006712429.4:c.1501C>A | XP_006712492.1:p.Gln501Lys | |
| XM_006712431.4:c.1432C>A | XP_006712494.1:p.Gln478Lys | |
| XM_006712432.4:c.1393C>A | XP_006712495.1:p.Gln465Lys | |
| XM_006712433.4:c.1303C>A | XP_006712496.1:p.Gln435Lys | |
| XM_006712434.4:c.1258C>A | XP_006712497.1:p.Gln420Lys | |
| XM_011510975.3:c.1681C>A | XP_011509277.1:p.Gln561Lys | |
| XM_017003819.1:c.1690C>A | XP_016859308.1:p.Gln564Lys | |
| XM_017003820.2:c.1492C>A | XP_016859309.1:p.Gln498Lys | |
| XM_017003821.2:c.1387C>A | XP_016859310.1:p.Gln463Lys | |
| XM_017003822.2:c.1294C>A | XP_016859311.1:p.Gln432Lys | |
| XM_017003823.1:c.1291C>A | XP_016859312.1:p.Gln431Lys | |
| XM_017003824.1:c.1222C>A | XP_016859313.1:p.Gln408Lys | |
| XM_017003825.1:c.1186C>A | XP_016859314.1:p.Gln396Lys | |
| XM_017003826.1:c.1183C>A | XP_016859315.1:p.Gln395Lys | |
| XM_017003827.2:c.1090C>A | XP_016859316.1:p.Gln364Lys | |
| XM_017003828.2:c.1045C>A | XP_016859317.1:p.Gln349Lys | |
| NM_139343.3:c.1717C>A MANE Select | NP_647593.1:p.Gln573Lys | |
| NM_001320632.2:c.1210C>A | NP_001307561.1:p.Gln404Lys | |
| NM_001320633.2:c.1348C>A | NP_001307562.1:p.Gln450Lys | |
| NM_001320640.2:c.1477C>A | NP_001307569.1:p.Gln493Lys | |
| NM_001320641.2:c.1624C>A | NP_001307570.1:p.Gln542Lys | |
| NM_004305.4:c.1300C>A | NP_004296.1:p.Gln434Lys | |
| NM_139344.3:c.1588C>A | NP_647594.1:p.Gln530Lys | |
| NM_139345.3:c.1456C>A | NP_647595.1:p.Gln486Lys | |
| NM_139346.3:c.1429C>A | NP_647596.1:p.Gln477Lys | |
| NM_139347.3:c.1492C>A | NP_647597.1:p.Gln498Lys | |
| NM_139348.3:c.1384C>A | NP_647598.1:p.Gln462Lys | |
| NM_139349.3:c.1363C>A | NP_647599.1:p.Gln455Lys | |
| NM_139350.3:c.1255C>A | NP_647600.1:p.Gln419Lys | |
| NM_139351.3:c.1165C>A | NP_647601.1:p.Gln389Lys |