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.131522977G>C , CM000671.2:g.131522977G>C | GRCh38 |
| NC_000009.11:g.134398364G>C , CM000671.1:g.134398364G>C | GRCh37 |
| NC_000009.10:g.133388185G>C | NCBI36 |
| NG_008896.1:g.25076G>C | |
| NG_008896.2:g.25076G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1887G>C | ENSP00000343034.7:p.Trp629Cys | |
| ENST00000404875.7:n.2589G>C | ||
| ENST00000423007.6:c.2106G>C | ENSP00000404119.2:p.Trp702Cys | |
| ENST00000677295.2:c.*2393G>C | ENSP00000504346.2:n.*2393G>C | |
| ENST00000678264.2:c.*2232G>C | ENSP00000503157.2:n.*2232G>C | |
| ENST00000682070.1:n.2359G>C | ||
| ENST00000682639.1:c.46G>C | ||
| ENST00000682813.1:n.2446G>C | ||
| ENST00000683231.1:c.46G>C | ||
| ENST00000683392.1:n.4641G>C | ||
| ENST00000683712.1:n.2454G>C | ||
| ENST00000683900.1:n.3949G>C | ||
| ENST00000684062.1:n.2715G>C | ||
| ENST00000684399.1:c.46G>C | ||
| ENST00000684579.1:n.3895G>C | ||
| ENST00000341012.12:c.1887G>C | ENSP00000343034.7:p.Trp629Cys | |
| ENST00000372220.5:c.918G>C | ENSP00000361294.5:p.Trp306Cys | |
| ENST00000372228.9:c.2115G>C | ENSP00000361302.3:p.Trp705Cys | |
| ENST00000402686.8:c.2049G>C MANE Select | ENSP00000385797.4:p.Trp683Cys | |
| ENST00000676640.1:c.2049G>C | ENSP00000503281.1:p.Trp683Cys | |
| ENST00000676803.1:c.1110G>C | ENSP00000503093.1:p.Trp370Cys | |
| ENST00000676835.1:c.*1264G>C | ENSP00000502911.1:n.*1264G>C | |
| ENST00000677029.1:c.1593G>C | ENSP00000502936.1:p.Trp531Cys | |
| ENST00000677099.1:c.*1759G>C | ENSP00000504553.1:n.*1759G>C | |
| ENST00000677216.1:c.1698G>C | ENSP00000503772.1:p.Trp566Cys | |
| ENST00000677221.1:n.1074G>C | ||
| ENST00000677295.1:c.*1271G>C | ENSP00000504346.1:n.*1271G>C | |
| ENST00000677444.1:c.1994G>C | ||
| ENST00000677586.1:n.1416G>C | ||
| ENST00000677626.1:c.1698G>C | ENSP00000503552.1:p.Trp566Cys | |
| ENST00000677853.1:c.*1057G>C | ENSP00000503488.1:n.*1057G>C | |
| ENST00000678264.1:c.*1426G>C | ENSP00000503157.1:n.*1426G>C | |
| ENST00000678303.1:c.1959G>C | ENSP00000503696.1:p.Trp653Cys | |
| ENST00000678366.1:c.*2298G>C | ENSP00000504353.1:n.*2298G>C | |
| ENST00000678546.1:c.*1994G>C | ENSP00000503062.1:n.*1994G>C | |
| ENST00000678548.1:c.*2188G>C | ENSP00000503934.1:n.*2188G>C | |
| ENST00000678626.1:n.1885G>C | ||
| ENST00000678739.1:c.*2215G>C | ENSP00000503806.1:n.*2215G>C | |
| ENST00000678833.1:c.*1801G>C | ENSP00000503893.1:n.*1801G>C | |
| ENST00000679023.1:c.1887G>C | ENSP00000503718.1:p.Trp629Cys | |
| ENST00000679076.1:c.1668G>C | ||
| ENST00000679111.1:c.*805G>C | ENSP00000504257.1:n.*805G>C | |
| ENST00000679189.1:c.1698G>C | ENSP00000503356.1:p.Trp566Cys | |
| ENST00000341012.11:c.1887G>C | ENSP00000343034.7:p.Trp629Cys | |
| ENST00000372220.4:c.912G>C | ENSP00000361294.4:p.Trp304Cys | |
| ENST00000372228.7:c.2115G>C | ENSP00000361302.3:p.Trp705Cys | |
| ENST00000402686.7:c.2049G>C | ENSP00000385797.3:p.Trp683Cys | |
| ENST00000404875.6:c.1698G>C | ENSP00000384531.2:p.Trp566Cys | |
| ENST00000423007.5:c.2049G>C | ENSP00000404119.1:p.Trp683Cys | |
| ENST00000485278.5:n.2599G>C | ||
| NM_001077365.1:c.2049G>C | NP_001070833.1:p.Trp683Cys | |
| NM_001077366.1:c.1887G>C | NP_001070834.1:p.Trp629Cys | |
| NM_001136113.1:c.2049G>C | NP_001129585.1:p.Trp683Cys | |
| NM_001136114.1:c.1698G>C | NP_001129586.1:p.Trp566Cys | |
| NM_007171.3:c.2115G>C | NP_009102.3:p.Trp705Cys | |
| XM_005272156.1:c.2115G>C | XP_005272213.1:p.Trp705Cys | |
| XM_005272158.1:c.1953G>C | XP_005272215.1:p.Trp651Cys | |
| XM_005272159.1:c.1764G>C | XP_005272216.1:p.Trp588Cys | |
| XM_005272162.1:c.918G>C | XP_005272219.1:p.Trp306Cys | |
| XM_006716932.1:c.1764G>C | XP_006716995.1:p.Trp588Cys | |
| XM_011518140.1:c.1968G>C | XP_011516442.1:p.Trp656Cys | |
| XM_011518141.1:c.1902G>C | XP_011516443.1:p.Trp634Cys | |
| XM_011518142.1:c.1806G>C | XP_011516444.1:p.Trp602Cys | |
| XM_011518143.1:c.1800G>C | XP_011516445.1:p.Trp600Cys | |
| XM_011518145.1:c.1659G>C | XP_011516447.1:p.Trp553Cys | |
| XM_011518147.1:c.987G>C | XP_011516449.1:p.Trp329Cys | |
| XR_929703.1:n.2291G>C | ||
| NM_001353193.1:c.2115G>C | NP_001340122.1:p.Trp705Cys | |
| NM_001353194.1:c.1887G>C | NP_001340123.1:p.Trp629Cys | |
| NM_001353195.1:c.1698G>C | NP_001340124.1:p.Trp566Cys | |
| NM_001353196.1:c.1959G>C | NP_001340125.1:p.Trp653Cys | |
| NM_001353197.1:c.1953G>C | NP_001340126.1:p.Trp651Cys | |
| NM_001353198.1:c.1953G>C | NP_001340127.1:p.Trp651Cys | |
| NM_001353199.1:c.1764G>C | NP_001340128.1:p.Trp588Cys | |
| NM_001353200.1:c.1593G>C | NP_001340129.1:p.Trp531Cys | |
| NR_148391.1:n.2099G>C | ||
| NR_148392.1:n.2317G>C | ||
| NR_148393.1:n.2238G>C | ||
| NR_148394.1:n.1992G>C | ||
| NR_148395.1:n.2390G>C | ||
| NR_148396.1:n.2024G>C | ||
| NR_148397.1:n.2149G>C | ||
| NR_148398.1:n.2104G>C | ||
| NR_148399.1:n.2630G>C | ||
| NR_148400.1:n.2229G>C | ||
| XM_005272162.3:c.918G>C | XP_005272219.1:p.Trp306Cys | |
| XM_006716932.2:c.1764G>C | XP_006716995.1:p.Trp588Cys | |
| XM_011518140.2:c.1968G>C | XP_011516442.1:p.Trp656Cys | |
| XM_011518141.2:c.1902G>C | XP_011516443.1:p.Trp634Cys | |
| XM_011518142.2:c.1806G>C | XP_011516444.1:p.Trp602Cys | |
| XM_011518143.2:c.1800G>C | XP_011516445.1:p.Trp600Cys | |
| XM_011518145.2:c.1659G>C | XP_011516447.1:p.Trp553Cys | |
| XM_017014205.2:c.918G>C | XP_016869694.1:p.Trp306Cys | |
| XM_024447380.1:c.918G>C | XP_024303148.1:p.Trp306Cys | |
| XM_024447381.1:c.1224G>C | XP_024303149.1:p.Trp408Cys | |
| XM_024447382.1:c.918G>C | XP_024303150.1:p.Trp306Cys | |
| XR_001746160.2:n.2219G>C | ||
| XR_001746162.2:n.2424G>C | ||
| XR_001746164.1:n.2141G>C | ||
| XR_001746166.2:n.2436G>C | ||
| NM_001077365.2:c.2049G>C MANE Select | NP_001070833.1:p.Trp683Cys | |
| NM_001077366.2:c.1887G>C | NP_001070834.1:p.Trp629Cys | |
| NM_001136113.2:c.2049G>C | NP_001129585.1:p.Trp683Cys | |
| NM_001136114.2:c.1698G>C | NP_001129586.1:p.Trp566Cys | |
| NM_001353193.2:c.2115G>C | NP_001340122.2:p.Trp705Cys | |
| NM_001353194.2:c.1887G>C | NP_001340123.1:p.Trp629Cys | |
| NM_001353195.2:c.1698G>C | NP_001340124.1:p.Trp566Cys | |
| NM_001353196.2:c.1959G>C | NP_001340125.1:p.Trp653Cys | |
| NM_001353197.2:c.1953G>C | NP_001340126.2:p.Trp651Cys | |
| NM_001353198.2:c.1953G>C | NP_001340127.2:p.Trp651Cys | |
| NM_001353199.2:c.1764G>C | NP_001340128.2:p.Trp588Cys | |
| NM_001353200.2:c.1593G>C | NP_001340129.1:p.Trp531Cys | |
| NM_001374689.1:c.2037G>C | NP_001361618.1:p.Trp679Cys | |
| NM_001374690.1:c.1830G>C | NP_001361619.1:p.Trp610Cys | |
| NM_001374691.1:c.1698G>C | NP_001361620.1:p.Trp566Cys | |
| NM_001374692.1:c.1698G>C | NP_001361621.1:p.Trp566Cys | |
| NM_001374693.1:c.1698G>C | NP_001361622.1:p.Trp566Cys | |
| NM_001374695.1:c.1659G>C | NP_001361624.1:p.Trp553Cys | |
| NM_007171.4:c.2115G>C | NP_009102.4:p.Trp705Cys | |
| NR_148391.2:n.2083G>C | ||
| NR_148392.2:n.2301G>C | ||
| NR_148393.2:n.2222G>C | ||
| NR_148394.2:n.1976G>C | ||
| NR_148395.2:n.2374G>C | ||
| NR_148396.2:n.2008G>C | ||
| NR_148397.2:n.2133G>C | ||
| NR_148398.2:n.2088G>C | ||
| NR_148399.2:n.2614G>C | ||
| NR_148400.2:n.2213G>C |