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
gnomAD v4:
9-131518948-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518948T>A , CM000671.2:g.131518948T>A | GRCh38 |
| NC_000009.11:g.134394335T>A , CM000671.1:g.134394335T>A | GRCh37 |
| NC_000009.10:g.133384156T>A | NCBI36 |
| NG_008896.1:g.21047T>A | |
| NG_008896.2:g.21047T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1315T>A | ENSP00000343034.7:p.Tyr439Asn | |
| ENST00000404875.7:n.2017T>A | ||
| ENST00000423007.6:c.1534T>A | ENSP00000404119.2:p.Tyr512Asn | |
| ENST00000677295.2:c.*1821T>A | ENSP00000504346.2:n.*1821T>A | |
| ENST00000678264.2:c.*1660T>A | ENSP00000503157.2:n.*1660T>A | |
| ENST00000682070.1:n.1942T>A | ||
| ENST00000682539.1:c.415T>A | ||
| ENST00000682813.1:n.1881T>A | ||
| ENST00000683392.1:n.4224T>A | ||
| ENST00000683712.1:n.1882T>A | ||
| ENST00000683900.1:n.3377T>A | ||
| ENST00000684062.1:n.2143T>A | ||
| ENST00000684579.1:n.3323T>A | ||
| ENST00000684679.1:n.704T>A | ||
| ENST00000341012.12:c.1315T>A | ENSP00000343034.7:p.Tyr439Asn | |
| ENST00000372220.5:c.346T>A | ENSP00000361294.5:p.Tyr116Asn | |
| ENST00000372228.9:c.1543T>A | ENSP00000361302.3:p.Tyr515Asn | |
| ENST00000402686.8:c.1477T>A MANE Select | ENSP00000385797.4:p.Tyr493Asn | |
| ENST00000676640.1:c.1477T>A | ENSP00000503281.1:p.Tyr493Asn | |
| ENST00000676803.1:c.652T>A | ENSP00000503093.1:p.Tyr218Asn | |
| ENST00000676835.1:c.*692T>A | ENSP00000502911.1:n.*692T>A | |
| ENST00000677029.1:c.1021T>A | ENSP00000502936.1:p.Tyr341Asn | |
| ENST00000677099.1:c.*1187T>A | ENSP00000504553.1:n.*1187T>A | |
| ENST00000677216.1:c.1126T>A | ENSP00000503772.1:p.Tyr376Asn | |
| ENST00000677221.1:n.502T>A | ||
| ENST00000677295.1:c.*854T>A | ENSP00000504346.1:n.*854T>A | |
| ENST00000677444.1:c.1422T>A | ||
| ENST00000677586.1:n.958T>A | ||
| ENST00000677626.1:c.1126T>A | ENSP00000503552.1:p.Tyr376Asn | |
| ENST00000677677.1:n.1437T>A | ||
| ENST00000677853.1:c.*485T>A | ENSP00000503488.1:n.*485T>A | |
| ENST00000678202.1:n.636T>A | ||
| ENST00000678264.1:c.*854T>A | ENSP00000503157.1:n.*854T>A | |
| ENST00000678303.1:c.1387T>A | ENSP00000503696.1:p.Tyr463Asn | |
| ENST00000678366.1:c.*1726T>A | ENSP00000504353.1:n.*1726T>A | |
| ENST00000678546.1:c.*1422T>A | ENSP00000503062.1:n.*1422T>A | |
| ENST00000678548.1:c.*1549T>A | ENSP00000503934.1:n.*1549T>A | |
| ENST00000678626.1:n.1313T>A | ||
| ENST00000678733.1:c.558T>A | ||
| ENST00000678739.1:c.*1803T>A | ENSP00000503806.1:n.*1803T>A | |
| ENST00000678833.1:c.*924T>A | ENSP00000503893.1:n.*924T>A | |
| ENST00000679023.1:c.1315T>A | ENSP00000503718.1:p.Tyr439Asn | |
| ENST00000679076.1:c.1096T>A | ||
| ENST00000679111.1:c.*233T>A | ENSP00000504257.1:n.*233T>A | |
| ENST00000679189.1:c.1126T>A | ENSP00000503356.1:p.Tyr376Asn | |
| ENST00000341012.11:c.1315T>A | ENSP00000343034.7:p.Tyr439Asn | |
| ENST00000372220.4:c.340T>A | ENSP00000361294.4:p.Tyr114Asn | |
| ENST00000372228.7:c.1543T>A | ENSP00000361302.3:p.Tyr515Asn | |
| ENST00000402686.7:c.1477T>A | ENSP00000385797.3:p.Tyr493Asn | |
| ENST00000404875.6:c.1126T>A | ENSP00000384531.2:p.Tyr376Asn | |
| ENST00000423007.5:c.1477T>A | ENSP00000404119.1:p.Tyr493Asn | |
| ENST00000467848.1:n.181T>A | ||
| ENST00000485278.5:n.2032T>A | ||
| NM_001077365.1:c.1477T>A | NP_001070833.1:p.Tyr493Asn | |
| NM_001077366.1:c.1315T>A | NP_001070834.1:p.Tyr439Asn | |
| NM_001136113.1:c.1477T>A | NP_001129585.1:p.Tyr493Asn | |
| NM_001136114.1:c.1126T>A | NP_001129586.1:p.Tyr376Asn | |
| NM_007171.3:c.1543T>A | NP_009102.3:p.Tyr515Asn | |
| XM_005272156.1:c.1543T>A | XP_005272213.1:p.Tyr515Asn | |
| XM_005272158.1:c.1381T>A | XP_005272215.1:p.Tyr461Asn | |
| XM_005272159.1:c.1192T>A | XP_005272216.1:p.Tyr398Asn | |
| XM_005272162.1:c.346T>A | XP_005272219.1:p.Tyr116Asn | |
| XM_006716932.1:c.1192T>A | XP_006716995.1:p.Tyr398Asn | |
| XM_011518140.1:c.1396T>A | XP_011516442.1:p.Tyr466Asn | |
| XM_011518141.1:c.1330T>A | XP_011516443.1:p.Tyr444Asn | |
| XM_011518142.1:c.1234T>A | XP_011516444.1:p.Tyr412Asn | |
| XM_011518143.1:c.1228T>A | XP_011516445.1:p.Tyr410Asn | |
| XM_011518145.1:c.1087T>A | XP_011516447.1:p.Tyr363Asn | |
| XM_011518147.1:c.415T>A | XP_011516449.1:p.Tyr139Asn | |
| XR_929703.1:n.1719T>A | ||
| NM_001353193.1:c.1543T>A | NP_001340122.1:p.Tyr515Asn | |
| NM_001353194.1:c.1315T>A | NP_001340123.1:p.Tyr439Asn | |
| NM_001353195.1:c.1126T>A | NP_001340124.1:p.Tyr376Asn | |
| NM_001353196.1:c.1387T>A | NP_001340125.1:p.Tyr463Asn | |
| NM_001353197.1:c.1381T>A | NP_001340126.1:p.Tyr461Asn | |
| NM_001353198.1:c.1381T>A | NP_001340127.1:p.Tyr461Asn | |
| NM_001353199.1:c.1192T>A | NP_001340128.1:p.Tyr398Asn | |
| NM_001353200.1:c.1021T>A | NP_001340129.1:p.Tyr341Asn | |
| NR_148391.1:n.1527T>A | ||
| NR_148392.1:n.1745T>A | ||
| NR_148393.1:n.1666T>A | ||
| NR_148394.1:n.1420T>A | ||
| NR_148395.1:n.1818T>A | ||
| NR_148396.1:n.1452T>A | ||
| NR_148397.1:n.1577T>A | ||
| NR_148398.1:n.1532T>A | ||
| NR_148399.1:n.2058T>A | ||
| NR_148400.1:n.1657T>A | ||
| XM_005272162.3:c.346T>A | XP_005272219.1:p.Tyr116Asn | |
| XM_006716932.2:c.1192T>A | XP_006716995.1:p.Tyr398Asn | |
| XM_011518140.2:c.1396T>A | XP_011516442.1:p.Tyr466Asn | |
| XM_011518141.2:c.1330T>A | XP_011516443.1:p.Tyr444Asn | |
| XM_011518142.2:c.1234T>A | XP_011516444.1:p.Tyr412Asn | |
| XM_011518143.2:c.1228T>A | XP_011516445.1:p.Tyr410Asn | |
| XM_011518145.2:c.1087T>A | XP_011516447.1:p.Tyr363Asn | |
| XM_017014205.2:c.346T>A | XP_016869694.1:p.Tyr116Asn | |
| XM_024447380.1:c.346T>A | XP_024303148.1:p.Tyr116Asn | |
| XM_024447381.1:c.652T>A | XP_024303149.1:p.Tyr218Asn | |
| XM_024447382.1:c.346T>A | XP_024303150.1:p.Tyr116Asn | |
| XR_001746160.2:n.1647T>A | ||
| XR_001746162.2:n.1852T>A | ||
| XR_001746164.1:n.1569T>A | ||
| XR_001746166.2:n.1864T>A | ||
| NM_001077365.2:c.1477T>A MANE Select | NP_001070833.1:p.Tyr493Asn | |
| NM_001077366.2:c.1315T>A | NP_001070834.1:p.Tyr439Asn | |
| NM_001136113.2:c.1477T>A | NP_001129585.1:p.Tyr493Asn | |
| NM_001136114.2:c.1126T>A | NP_001129586.1:p.Tyr376Asn | |
| NM_001353193.2:c.1543T>A | NP_001340122.2:p.Tyr515Asn | |
| NM_001353194.2:c.1315T>A | NP_001340123.1:p.Tyr439Asn | |
| NM_001353195.2:c.1126T>A | NP_001340124.1:p.Tyr376Asn | |
| NM_001353196.2:c.1387T>A | NP_001340125.1:p.Tyr463Asn | |
| NM_001353197.2:c.1381T>A | NP_001340126.2:p.Tyr461Asn | |
| NM_001353198.2:c.1381T>A | NP_001340127.2:p.Tyr461Asn | |
| NM_001353199.2:c.1192T>A | NP_001340128.2:p.Tyr398Asn | |
| NM_001353200.2:c.1021T>A | NP_001340129.1:p.Tyr341Asn | |
| NM_001374689.1:c.1465T>A | NP_001361618.1:p.Tyr489Asn | |
| NM_001374690.1:c.1365+411T>A | NP_001361619.1:n.1365+411T>A | |
| NM_001374691.1:c.1126T>A | NP_001361620.1:p.Tyr376Asn | |
| NM_001374692.1:c.1126T>A | NP_001361621.1:p.Tyr376Asn | |
| NM_001374693.1:c.1126T>A | NP_001361622.1:p.Tyr376Asn | |
| NM_001374695.1:c.1087T>A | NP_001361624.1:p.Tyr363Asn | |
| NM_007171.4:c.1543T>A | NP_009102.4:p.Tyr515Asn | |
| NR_148391.2:n.1511T>A | ||
| NR_148392.2:n.1729T>A | ||
| NR_148393.2:n.1650T>A | ||
| NR_148394.2:n.1404T>A | ||
| NR_148395.2:n.1802T>A | ||
| NR_148396.2:n.1436T>A | ||
| NR_148397.2:n.1561T>A | ||
| NR_148398.2:n.1516T>A | ||
| NR_148399.2:n.2042T>A | ||
| NR_148400.2:n.1641T>A |