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.131522083G>C , CM000671.2:g.131522083G>C | GRCh38 |
| NC_000009.11:g.134397470G>C , CM000671.1:g.134397470G>C | GRCh37 |
| NC_000009.10:g.133387291G>C | NCBI36 |
| NG_008896.1:g.24182G>C | |
| NG_008896.2:g.24182G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1700G>C | ENSP00000343034.7:p.Cys567Ser | |
| ENST00000404875.7:n.2402G>C | ||
| ENST00000423007.6:c.1919G>C | ENSP00000404119.2:p.Cys640Ser | |
| ENST00000677295.2:c.*2206G>C | ENSP00000504346.2:n.*2206G>C | |
| ENST00000678264.2:c.*2045G>C | ENSP00000503157.2:n.*2045G>C | |
| ENST00000682070.1:n.2291-119G>C | ||
| ENST00000682813.1:n.2266G>C | ||
| ENST00000683392.1:n.4573-119G>C | ||
| ENST00000683712.1:n.2267G>C | ||
| ENST00000683900.1:n.3762G>C | ||
| ENST00000684062.1:n.2528G>C | ||
| ENST00000684579.1:n.3708G>C | ||
| ENST00000684679.1:n.1089G>C | ||
| ENST00000341012.12:c.1700G>C | ENSP00000343034.7:p.Cys567Ser | |
| ENST00000372220.5:c.731G>C | ENSP00000361294.5:p.Cys244Ser | |
| ENST00000372228.9:c.1928G>C | ENSP00000361302.3:p.Cys643Ser | |
| ENST00000402686.8:c.1862G>C MANE Select | ENSP00000385797.4:p.Cys621Ser | |
| ENST00000676640.1:c.1862G>C | ENSP00000503281.1:p.Cys621Ser | |
| ENST00000676803.1:c.923G>C | ENSP00000503093.1:p.Cys308Ser | |
| ENST00000676835.1:c.*1077G>C | ENSP00000502911.1:n.*1077G>C | |
| ENST00000677029.1:c.1406G>C | ENSP00000502936.1:p.Cys469Ser | |
| ENST00000677099.1:c.*1572G>C | ENSP00000504553.1:n.*1572G>C | |
| ENST00000677216.1:c.1511G>C | ENSP00000503772.1:p.Cys504Ser | |
| ENST00000677221.1:n.887G>C | ||
| ENST00000677295.1:c.*1203-119G>C | ENSP00000504346.1:n.*1203-119G>C | |
| ENST00000677444.1:c.1807G>C | ||
| ENST00000677586.1:n.1229G>C | ||
| ENST00000677626.1:c.1511G>C | ENSP00000503552.1:p.Cys504Ser | |
| ENST00000677853.1:c.*870G>C | ENSP00000503488.1:n.*870G>C | |
| ENST00000678202.1:n.1021G>C | ||
| ENST00000678264.1:c.*1239G>C | ENSP00000503157.1:n.*1239G>C | |
| ENST00000678303.1:c.1772G>C | ENSP00000503696.1:p.Cys591Ser | |
| ENST00000678366.1:c.*2111G>C | ENSP00000504353.1:n.*2111G>C | |
| ENST00000678546.1:c.*1807G>C | ENSP00000503062.1:n.*1807G>C | |
| ENST00000678548.1:c.*2001G>C | ENSP00000503934.1:n.*2001G>C | |
| ENST00000678626.1:n.1698G>C | ||
| ENST00000678739.1:c.*2147-119G>C | ENSP00000503806.1:n.*2147-119G>C | |
| ENST00000678833.1:c.*1614G>C | ENSP00000503893.1:n.*1614G>C | |
| ENST00000679023.1:c.1700G>C | ENSP00000503718.1:p.Cys567Ser | |
| ENST00000679076.1:c.1481G>C | ||
| ENST00000679111.1:c.*618G>C | ENSP00000504257.1:n.*618G>C | |
| ENST00000679189.1:c.1511G>C | ENSP00000503356.1:p.Cys504Ser | |
| ENST00000341012.11:c.1700G>C | ENSP00000343034.7:p.Cys567Ser | |
| ENST00000372220.4:c.725G>C | ENSP00000361294.4:p.Cys242Ser | |
| ENST00000372228.7:c.1928G>C | ENSP00000361302.3:p.Cys643Ser | |
| ENST00000402686.7:c.1862G>C | ENSP00000385797.3:p.Cys621Ser | |
| ENST00000404875.6:c.1511G>C | ENSP00000384531.2:p.Cys504Ser | |
| ENST00000423007.5:c.1862G>C | ENSP00000404119.1:p.Cys621Ser | |
| ENST00000485278.5:n.2412G>C | ||
| ENST00000494883.1:n.405G>C | ||
| NM_001077365.1:c.1862G>C | NP_001070833.1:p.Cys621Ser | |
| NM_001077366.1:c.1700G>C | NP_001070834.1:p.Cys567Ser | |
| NM_001136113.1:c.1862G>C | NP_001129585.1:p.Cys621Ser | |
| NM_001136114.1:c.1511G>C | NP_001129586.1:p.Cys504Ser | |
| NM_007171.3:c.1928G>C | NP_009102.3:p.Cys643Ser | |
| XM_005272156.1:c.1928G>C | XP_005272213.1:p.Cys643Ser | |
| XM_005272158.1:c.1766G>C | XP_005272215.1:p.Cys589Ser | |
| XM_005272159.1:c.1577G>C | XP_005272216.1:p.Cys526Ser | |
| XM_005272162.1:c.731G>C | XP_005272219.1:p.Cys244Ser | |
| XM_006716932.1:c.1577G>C | XP_006716995.1:p.Cys526Ser | |
| XM_011518140.1:c.1781G>C | XP_011516442.1:p.Cys594Ser | |
| XM_011518141.1:c.1715G>C | XP_011516443.1:p.Cys572Ser | |
| XM_011518142.1:c.1619G>C | XP_011516444.1:p.Cys540Ser | |
| XM_011518143.1:c.1613G>C | XP_011516445.1:p.Cys538Ser | |
| XM_011518145.1:c.1472G>C | XP_011516447.1:p.Cys491Ser | |
| XM_011518147.1:c.800G>C | XP_011516449.1:p.Cys267Ser | |
| XR_929703.1:n.2104G>C | ||
| NM_001353193.1:c.1928G>C | NP_001340122.1:p.Cys643Ser | |
| NM_001353194.1:c.1700G>C | NP_001340123.1:p.Cys567Ser | |
| NM_001353195.1:c.1511G>C | NP_001340124.1:p.Cys504Ser | |
| NM_001353196.1:c.1772G>C | NP_001340125.1:p.Cys591Ser | |
| NM_001353197.1:c.1766G>C | NP_001340126.1:p.Cys589Ser | |
| NM_001353198.1:c.1766G>C | NP_001340127.1:p.Cys589Ser | |
| NM_001353199.1:c.1577G>C | NP_001340128.1:p.Cys526Ser | |
| NM_001353200.1:c.1406G>C | NP_001340129.1:p.Cys469Ser | |
| NR_148391.1:n.1912G>C | ||
| NR_148392.1:n.2130G>C | ||
| NR_148393.1:n.2051G>C | ||
| NR_148394.1:n.1805G>C | ||
| NR_148395.1:n.2203G>C | ||
| NR_148396.1:n.1837G>C | ||
| NR_148397.1:n.1962G>C | ||
| NR_148398.1:n.1917G>C | ||
| NR_148399.1:n.2443G>C | ||
| NR_148400.1:n.2042G>C | ||
| XM_005272162.3:c.731G>C | XP_005272219.1:p.Cys244Ser | |
| XM_006716932.2:c.1577G>C | XP_006716995.1:p.Cys526Ser | |
| XM_011518140.2:c.1781G>C | XP_011516442.1:p.Cys594Ser | |
| XM_011518141.2:c.1715G>C | XP_011516443.1:p.Cys572Ser | |
| XM_011518142.2:c.1619G>C | XP_011516444.1:p.Cys540Ser | |
| XM_011518143.2:c.1613G>C | XP_011516445.1:p.Cys538Ser | |
| XM_011518145.2:c.1472G>C | XP_011516447.1:p.Cys491Ser | |
| XM_017014205.2:c.731G>C | XP_016869694.1:p.Cys244Ser | |
| XM_024447380.1:c.731G>C | XP_024303148.1:p.Cys244Ser | |
| XM_024447381.1:c.1037G>C | XP_024303149.1:p.Cys346Ser | |
| XM_024447382.1:c.731G>C | XP_024303150.1:p.Cys244Ser | |
| XR_001746160.2:n.2032G>C | ||
| XR_001746162.2:n.2237G>C | ||
| XR_001746164.1:n.1954G>C | ||
| XR_001746166.2:n.2249G>C | ||
| NM_001077365.2:c.1862G>C MANE Select | NP_001070833.1:p.Cys621Ser | |
| NM_001077366.2:c.1700G>C | NP_001070834.1:p.Cys567Ser | |
| NM_001136113.2:c.1862G>C | NP_001129585.1:p.Cys621Ser | |
| NM_001136114.2:c.1511G>C | NP_001129586.1:p.Cys504Ser | |
| NM_001353193.2:c.1928G>C | NP_001340122.2:p.Cys643Ser | |
| NM_001353194.2:c.1700G>C | NP_001340123.1:p.Cys567Ser | |
| NM_001353195.2:c.1511G>C | NP_001340124.1:p.Cys504Ser | |
| NM_001353196.2:c.1772G>C | NP_001340125.1:p.Cys591Ser | |
| NM_001353197.2:c.1766G>C | NP_001340126.2:p.Cys589Ser | |
| NM_001353198.2:c.1766G>C | NP_001340127.2:p.Cys589Ser | |
| NM_001353199.2:c.1577G>C | NP_001340128.2:p.Cys526Ser | |
| NM_001353200.2:c.1406G>C | NP_001340129.1:p.Cys469Ser | |
| NM_001374689.1:c.1850G>C | NP_001361618.1:p.Cys617Ser | |
| NM_001374690.1:c.1643G>C | NP_001361619.1:p.Cys548Ser | |
| NM_001374691.1:c.1511G>C | NP_001361620.1:p.Cys504Ser | |
| NM_001374692.1:c.1511G>C | NP_001361621.1:p.Cys504Ser | |
| NM_001374693.1:c.1511G>C | NP_001361622.1:p.Cys504Ser | |
| NM_001374695.1:c.1472G>C | NP_001361624.1:p.Cys491Ser | |
| NM_007171.4:c.1928G>C | NP_009102.4:p.Cys643Ser | |
| NR_148391.2:n.1896G>C | ||
| NR_148392.2:n.2114G>C | ||
| NR_148393.2:n.2035G>C | ||
| NR_148394.2:n.1789G>C | ||
| NR_148395.2:n.2187G>C | ||
| NR_148396.2:n.1821G>C | ||
| NR_148397.2:n.1946G>C | ||
| NR_148398.2:n.1901G>C | ||
| NR_148399.2:n.2427G>C | ||
| NR_148400.2:n.2026G>C |