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.131523076C= , CM000671.2:g.131523076C= | GRCh38 |
| NC_000009.11:g.134398463C= , CM000671.1:g.134398463C= | GRCh37 |
| NC_000009.10:g.133388284C= | NCBI36 |
| NG_008896.1:g.25175C= | |
| NG_008896.2:g.25175C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1986C= | ENSP00000343034.7:p.Asp662= | |
| ENST00000404875.7:n.2688C= | ||
| ENST00000423007.6:c.2205C= | ENSP00000404119.2:p.Asp735= | |
| ENST00000677295.2:c.*2492C= | ENSP00000504346.2:n.*2492C= | |
| ENST00000678264.2:c.*2331C= | ENSP00000503157.2:n.*2331C= | |
| ENST00000682070.1:n.2458C= | ||
| ENST00000682639.1:c.145C= | ||
| ENST00000682813.1:n.2545C= | ||
| ENST00000683231.1:c.145C= | ||
| ENST00000683392.1:n.4740C= | ||
| ENST00000683712.1:n.2553C= | ||
| ENST00000683900.1:n.4048C= | ||
| ENST00000684062.1:n.2814C= | ||
| ENST00000684399.1:c.145C= | ||
| ENST00000684579.1:n.3994C= | ||
| ENST00000341012.12:c.1986C= | ENSP00000343034.7:p.Asp662= | |
| ENST00000372220.5:c.1017C= | ENSP00000361294.5:p.Asp339= | |
| ENST00000372228.9:c.2214C= | ENSP00000361302.3:p.Asp738= | |
| ENST00000402686.8:c.2148C= MANE Select | ENSP00000385797.4:p.Asp716= | |
| ENST00000676640.1:c.2148C= | ENSP00000503281.1:p.Asp716= | |
| ENST00000676803.1:c.1209C= | ENSP00000503093.1:p.Asp403= | |
| ENST00000676835.1:c.*1363C= | ENSP00000502911.1:n.*1363C= | |
| ENST00000677029.1:c.1692C= | ENSP00000502936.1:p.Asp564= | |
| ENST00000677099.1:c.*1858C= | ENSP00000504553.1:n.*1858C= | |
| ENST00000677216.1:c.1797C= | ENSP00000503772.1:p.Asp599= | |
| ENST00000677295.1:c.*1370C= | ENSP00000504346.1:n.*1370C= | |
| ENST00000677444.1:c.2093C= | ||
| ENST00000677586.1:n.1515C= | ||
| ENST00000677626.1:c.1797C= | ENSP00000503552.1:p.Asp599= | |
| ENST00000677853.1:c.*1156C= | ENSP00000503488.1:n.*1156C= | |
| ENST00000678264.1:c.*1525C= | ENSP00000503157.1:n.*1525C= | |
| ENST00000678303.1:c.2058C= | ENSP00000503696.1:p.Asp686= | |
| ENST00000678366.1:c.*2397C= | ENSP00000504353.1:n.*2397C= | |
| ENST00000678546.1:c.*2093C= | ENSP00000503062.1:n.*2093C= | |
| ENST00000678548.1:c.*2287C= | ENSP00000503934.1:n.*2287C= | |
| ENST00000678626.1:n.1984C= | ||
| ENST00000678739.1:c.*2314C= | ENSP00000503806.1:n.*2314C= | |
| ENST00000678833.1:c.*1900C= | ENSP00000503893.1:n.*1900C= | |
| ENST00000679023.1:c.1986C= | ENSP00000503718.1:p.Asp662= | |
| ENST00000679076.1:c.1767C= | ||
| ENST00000679111.1:c.*904C= | ENSP00000504257.1:n.*904C= | |
| ENST00000679189.1:c.1797C= | ENSP00000503356.1:p.Asp599= | |
| ENST00000341012.11:c.1986C= | ENSP00000343034.7:p.Asp662= | |
| ENST00000372220.4:c.1011C= | ENSP00000361294.4:p.Asp337= | |
| ENST00000372228.7:c.2214C= | ENSP00000361302.3:p.Asp738= | |
| ENST00000402686.7:c.2148C= | ENSP00000385797.3:p.Asp716= | |
| ENST00000404875.6:c.1797C= | ENSP00000384531.2:p.Asp599= | |
| ENST00000423007.5:c.2148C= | ENSP00000404119.1:p.Asp716= | |
| ENST00000485278.5:n.2698C= | ||
| NM_001077365.1:c.2148C= | NP_001070833.1:p.Asp716= | |
| NM_001077366.1:c.1986C= | NP_001070834.1:p.Asp662= | |
| NM_001136113.1:c.2148C= | NP_001129585.1:p.Asp716= | |
| NM_001136114.1:c.1797C= | NP_001129586.1:p.Asp599= | |
| NM_007171.3:c.2214C= | NP_009102.3:p.Asp738= | |
| XM_005272156.1:c.2214C= | XP_005272213.1:p.Asp738= | |
| XM_005272158.1:c.2052C= | XP_005272215.1:p.Asp684= | |
| XM_005272159.1:c.1863C= | XP_005272216.1:p.Asp621= | |
| XM_005272162.1:c.1017C= | XP_005272219.1:p.Asp339= | |
| XM_006716932.1:c.1863C= | XP_006716995.1:p.Asp621= | |
| XM_011518140.1:c.2067C= | XP_011516442.1:p.Asp689= | |
| XM_011518141.1:c.2001C= | XP_011516443.1:p.Asp667= | |
| XM_011518142.1:c.1905C= | XP_011516444.1:p.Asp635= | |
| XM_011518143.1:c.1899C= | XP_011516445.1:p.Asp633= | |
| XM_011518145.1:c.1758C= | XP_011516447.1:p.Asp586= | |
| XM_011518147.1:c.1086C= | XP_011516449.1:p.Asp362= | |
| XR_929703.1:n.2390C= | ||
| NM_001353193.1:c.2214C= | NP_001340122.1:p.Asp738= | |
| NM_001353194.1:c.1986C= | NP_001340123.1:p.Asp662= | |
| NM_001353195.1:c.1797C= | NP_001340124.1:p.Asp599= | |
| NM_001353196.1:c.2058C= | NP_001340125.1:p.Asp686= | |
| NM_001353197.1:c.2052C= | NP_001340126.1:p.Asp684= | |
| NM_001353198.1:c.2052C= | NP_001340127.1:p.Asp684= | |
| NM_001353199.1:c.1863C= | NP_001340128.1:p.Asp621= | |
| NM_001353200.1:c.1692C= | NP_001340129.1:p.Asp564= | |
| NR_148391.1:n.2198C= | ||
| NR_148392.1:n.2416C= | ||
| NR_148393.1:n.2337C= | ||
| NR_148394.1:n.2091C= | ||
| NR_148395.1:n.2489C= | ||
| NR_148396.1:n.2123C= | ||
| NR_148397.1:n.2248C= | ||
| NR_148398.1:n.2203C= | ||
| NR_148399.1:n.2729C= | ||
| NR_148400.1:n.2328C= | ||
| XM_005272162.3:c.1017C= | XP_005272219.1:p.Asp339= | |
| XM_006716932.2:c.1863C= | XP_006716995.1:p.Asp621= | |
| XM_011518140.2:c.2067C= | XP_011516442.1:p.Asp689= | |
| XM_011518141.2:c.2001C= | XP_011516443.1:p.Asp667= | |
| XM_011518142.2:c.1905C= | XP_011516444.1:p.Asp635= | |
| XM_011518143.2:c.1899C= | XP_011516445.1:p.Asp633= | |
| XM_011518145.2:c.1758C= | XP_011516447.1:p.Asp586= | |
| XM_017014205.2:c.1017C= | XP_016869694.1:p.Asp339= | |
| XM_024447380.1:c.1017C= | XP_024303148.1:p.Asp339= | |
| XM_024447381.1:c.1323C= | XP_024303149.1:p.Asp441= | |
| XM_024447382.1:c.1017C= | XP_024303150.1:p.Asp339= | |
| XR_001746160.2:n.2318C= | ||
| XR_001746162.2:n.2523C= | ||
| XR_001746164.1:n.2240C= | ||
| XR_001746166.2:n.2535C= | ||
| NM_001077365.2:c.2148C= MANE Select | NP_001070833.1:p.Asp716= | |
| NM_001077366.2:c.1986C= | NP_001070834.1:p.Asp662= | |
| NM_001136113.2:c.2148C= | NP_001129585.1:p.Asp716= | |
| NM_001136114.2:c.1797C= | NP_001129586.1:p.Asp599= | |
| NM_001353193.2:c.2214C= | NP_001340122.2:p.Asp738= | |
| NM_001353194.2:c.1986C= | NP_001340123.1:p.Asp662= | |
| NM_001353195.2:c.1797C= | NP_001340124.1:p.Asp599= | |
| NM_001353196.2:c.2058C= | NP_001340125.1:p.Asp686= | |
| NM_001353197.2:c.2052C= | NP_001340126.2:p.Asp684= | |
| NM_001353198.2:c.2052C= | NP_001340127.2:p.Asp684= | |
| NM_001353199.2:c.1863C= | NP_001340128.2:p.Asp621= | |
| NM_001353200.2:c.1692C= | NP_001340129.1:p.Asp564= | |
| NM_001374689.1:c.2136C= | NP_001361618.1:p.Asp712= | |
| NM_001374690.1:c.1929C= | NP_001361619.1:p.Asp643= | |
| NM_001374691.1:c.1797C= | NP_001361620.1:p.Asp599= | |
| NM_001374692.1:c.1797C= | NP_001361621.1:p.Asp599= | |
| NM_001374693.1:c.1797C= | NP_001361622.1:p.Asp599= | |
| NM_001374695.1:c.1758C= | NP_001361624.1:p.Asp586= | |
| NM_007171.4:c.2214C= | NP_009102.4:p.Asp738= | |
| NR_148391.2:n.2182C= | ||
| NR_148392.2:n.2400C= | ||
| NR_148393.2:n.2321C= | ||
| NR_148394.2:n.2075C= | ||
| NR_148395.2:n.2473C= | ||
| NR_148396.2:n.2107C= | ||
| NR_148397.2:n.2232C= | ||
| NR_148398.2:n.2187C= | ||
| NR_148399.2:n.2713C= | ||
| NR_148400.2:n.2312C= |