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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522976G>A , CM000671.2:g.131522976G>A | GRCh38 |
| NC_000009.11:g.134398363G>A , CM000671.1:g.134398363G>A | GRCh37 |
| NC_000009.10:g.133388184G>A | NCBI36 |
| NG_008896.1:g.25075G>A | |
| NG_008896.2:g.25075G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1886G>A | ENSP00000343034.7:p.Trp629Ter | |
| ENST00000404875.7:n.2588G>A | ||
| ENST00000423007.6:c.2105G>A | ENSP00000404119.2:p.Trp702Ter | |
| ENST00000677295.2:c.*2392G>A | ENSP00000504346.2:n.*2392G>A | |
| ENST00000678264.2:c.*2231G>A | ENSP00000503157.2:n.*2231G>A | |
| ENST00000682070.1:n.2358G>A | ||
| ENST00000682639.1:c.45G>A | ||
| ENST00000682813.1:n.2445G>A | ||
| ENST00000683231.1:c.45G>A | ||
| ENST00000683392.1:n.4640G>A | ||
| ENST00000683712.1:n.2453G>A | ||
| ENST00000683900.1:n.3948G>A | ||
| ENST00000684062.1:n.2714G>A | ||
| ENST00000684399.1:c.45G>A | ||
| ENST00000684579.1:n.3894G>A | ||
| ENST00000341012.12:c.1886G>A | ENSP00000343034.7:p.Trp629Ter | |
| ENST00000372220.5:c.917G>A | ENSP00000361294.5:p.Trp306Ter | |
| ENST00000372228.9:c.2114G>A | ENSP00000361302.3:p.Trp705Ter | |
| ENST00000402686.8:c.2048G>A MANE Select | ENSP00000385797.4:p.Trp683Ter | |
| ENST00000676640.1:c.2048G>A | ENSP00000503281.1:p.Trp683Ter | |
| ENST00000676803.1:c.1109G>A | ENSP00000503093.1:p.Trp370Ter | |
| ENST00000676835.1:c.*1263G>A | ENSP00000502911.1:n.*1263G>A | |
| ENST00000677029.1:c.1592G>A | ENSP00000502936.1:p.Trp531Ter | |
| ENST00000677099.1:c.*1758G>A | ENSP00000504553.1:n.*1758G>A | |
| ENST00000677216.1:c.1697G>A | ENSP00000503772.1:p.Trp566Ter | |
| ENST00000677221.1:n.1073G>A | ||
| ENST00000677295.1:c.*1270G>A | ENSP00000504346.1:n.*1270G>A | |
| ENST00000677444.1:c.1993G>A | ||
| ENST00000677586.1:n.1415G>A | ||
| ENST00000677626.1:c.1697G>A | ENSP00000503552.1:p.Trp566Ter | |
| ENST00000677853.1:c.*1056G>A | ENSP00000503488.1:n.*1056G>A | |
| ENST00000678264.1:c.*1425G>A | ENSP00000503157.1:n.*1425G>A | |
| ENST00000678303.1:c.1958G>A | ENSP00000503696.1:p.Trp653Ter | |
| ENST00000678366.1:c.*2297G>A | ENSP00000504353.1:n.*2297G>A | |
| ENST00000678546.1:c.*1993G>A | ENSP00000503062.1:n.*1993G>A | |
| ENST00000678548.1:c.*2187G>A | ENSP00000503934.1:n.*2187G>A | |
| ENST00000678626.1:n.1884G>A | ||
| ENST00000678739.1:c.*2214G>A | ENSP00000503806.1:n.*2214G>A | |
| ENST00000678833.1:c.*1800G>A | ENSP00000503893.1:n.*1800G>A | |
| ENST00000679023.1:c.1886G>A | ENSP00000503718.1:p.Trp629Ter | |
| ENST00000679076.1:c.1667G>A | ||
| ENST00000679111.1:c.*804G>A | ENSP00000504257.1:n.*804G>A | |
| ENST00000679189.1:c.1697G>A | ENSP00000503356.1:p.Trp566Ter | |
| ENST00000341012.11:c.1886G>A | ENSP00000343034.7:p.Trp629Ter | |
| ENST00000372220.4:c.911G>A | ENSP00000361294.4:p.Trp304Ter | |
| ENST00000372228.7:c.2114G>A | ENSP00000361302.3:p.Trp705Ter | |
| ENST00000402686.7:c.2048G>A | ENSP00000385797.3:p.Trp683Ter | |
| ENST00000404875.6:c.1697G>A | ENSP00000384531.2:p.Trp566Ter | |
| ENST00000423007.5:c.2048G>A | ENSP00000404119.1:p.Trp683Ter | |
| ENST00000485278.5:n.2598G>A | ||
| NM_001077365.1:c.2048G>A | NP_001070833.1:p.Trp683Ter | |
| NM_001077366.1:c.1886G>A | NP_001070834.1:p.Trp629Ter | |
| NM_001136113.1:c.2048G>A | NP_001129585.1:p.Trp683Ter | |
| NM_001136114.1:c.1697G>A | NP_001129586.1:p.Trp566Ter | |
| NM_007171.3:c.2114G>A | NP_009102.3:p.Trp705Ter | |
| XM_005272156.1:c.2114G>A | XP_005272213.1:p.Trp705Ter | |
| XM_005272158.1:c.1952G>A | XP_005272215.1:p.Trp651Ter | |
| XM_005272159.1:c.1763G>A | XP_005272216.1:p.Trp588Ter | |
| XM_005272162.1:c.917G>A | XP_005272219.1:p.Trp306Ter | |
| XM_006716932.1:c.1763G>A | XP_006716995.1:p.Trp588Ter | |
| XM_011518140.1:c.1967G>A | XP_011516442.1:p.Trp656Ter | |
| XM_011518141.1:c.1901G>A | XP_011516443.1:p.Trp634Ter | |
| XM_011518142.1:c.1805G>A | XP_011516444.1:p.Trp602Ter | |
| XM_011518143.1:c.1799G>A | XP_011516445.1:p.Trp600Ter | |
| XM_011518145.1:c.1658G>A | XP_011516447.1:p.Trp553Ter | |
| XM_011518147.1:c.986G>A | XP_011516449.1:p.Trp329Ter | |
| XR_929703.1:n.2290G>A | ||
| NM_001353193.1:c.2114G>A | NP_001340122.1:p.Trp705Ter | |
| NM_001353194.1:c.1886G>A | NP_001340123.1:p.Trp629Ter | |
| NM_001353195.1:c.1697G>A | NP_001340124.1:p.Trp566Ter | |
| NM_001353196.1:c.1958G>A | NP_001340125.1:p.Trp653Ter | |
| NM_001353197.1:c.1952G>A | NP_001340126.1:p.Trp651Ter | |
| NM_001353198.1:c.1952G>A | NP_001340127.1:p.Trp651Ter | |
| NM_001353199.1:c.1763G>A | NP_001340128.1:p.Trp588Ter | |
| NM_001353200.1:c.1592G>A | NP_001340129.1:p.Trp531Ter | |
| NR_148391.1:n.2098G>A | ||
| NR_148392.1:n.2316G>A | ||
| NR_148393.1:n.2237G>A | ||
| NR_148394.1:n.1991G>A | ||
| NR_148395.1:n.2389G>A | ||
| NR_148396.1:n.2023G>A | ||
| NR_148397.1:n.2148G>A | ||
| NR_148398.1:n.2103G>A | ||
| NR_148399.1:n.2629G>A | ||
| NR_148400.1:n.2228G>A | ||
| XM_005272162.3:c.917G>A | XP_005272219.1:p.Trp306Ter | |
| XM_006716932.2:c.1763G>A | XP_006716995.1:p.Trp588Ter | |
| XM_011518140.2:c.1967G>A | XP_011516442.1:p.Trp656Ter | |
| XM_011518141.2:c.1901G>A | XP_011516443.1:p.Trp634Ter | |
| XM_011518142.2:c.1805G>A | XP_011516444.1:p.Trp602Ter | |
| XM_011518143.2:c.1799G>A | XP_011516445.1:p.Trp600Ter | |
| XM_011518145.2:c.1658G>A | XP_011516447.1:p.Trp553Ter | |
| XM_017014205.2:c.917G>A | XP_016869694.1:p.Trp306Ter | |
| XM_024447380.1:c.917G>A | XP_024303148.1:p.Trp306Ter | |
| XM_024447381.1:c.1223G>A | XP_024303149.1:p.Trp408Ter | |
| XM_024447382.1:c.917G>A | XP_024303150.1:p.Trp306Ter | |
| XR_001746160.2:n.2218G>A | ||
| XR_001746162.2:n.2423G>A | ||
| XR_001746164.1:n.2140G>A | ||
| XR_001746166.2:n.2435G>A | ||
| NM_001077365.2:c.2048G>A MANE Select | NP_001070833.1:p.Trp683Ter | |
| NM_001077366.2:c.1886G>A | NP_001070834.1:p.Trp629Ter | |
| NM_001136113.2:c.2048G>A | NP_001129585.1:p.Trp683Ter | |
| NM_001136114.2:c.1697G>A | NP_001129586.1:p.Trp566Ter | |
| NM_001353193.2:c.2114G>A | NP_001340122.2:p.Trp705Ter | |
| NM_001353194.2:c.1886G>A | NP_001340123.1:p.Trp629Ter | |
| NM_001353195.2:c.1697G>A | NP_001340124.1:p.Trp566Ter | |
| NM_001353196.2:c.1958G>A | NP_001340125.1:p.Trp653Ter | |
| NM_001353197.2:c.1952G>A | NP_001340126.2:p.Trp651Ter | |
| NM_001353198.2:c.1952G>A | NP_001340127.2:p.Trp651Ter | |
| NM_001353199.2:c.1763G>A | NP_001340128.2:p.Trp588Ter | |
| NM_001353200.2:c.1592G>A | NP_001340129.1:p.Trp531Ter | |
| NM_001374689.1:c.2036G>A | NP_001361618.1:p.Trp679Ter | |
| NM_001374690.1:c.1829G>A | NP_001361619.1:p.Trp610Ter | |
| NM_001374691.1:c.1697G>A | NP_001361620.1:p.Trp566Ter | |
| NM_001374692.1:c.1697G>A | NP_001361621.1:p.Trp566Ter | |
| NM_001374693.1:c.1697G>A | NP_001361622.1:p.Trp566Ter | |
| NM_001374695.1:c.1658G>A | NP_001361624.1:p.Trp553Ter | |
| NM_007171.4:c.2114G>A | NP_009102.4:p.Trp705Ter | |
| NR_148391.2:n.2082G>A | ||
| NR_148392.2:n.2300G>A | ||
| NR_148393.2:n.2221G>A | ||
| NR_148394.2:n.1975G>A | ||
| NR_148395.2:n.2373G>A | ||
| NR_148396.2:n.2007G>A | ||
| NR_148397.2:n.2132G>A | ||
| NR_148398.2:n.2087G>A | ||
| NR_148399.2:n.2613G>A | ||
| NR_148400.2:n.2212G>A |