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.131522084T>A , CM000671.2:g.131522084T>A | GRCh38 |
| NC_000009.11:g.134397471T>A , CM000671.1:g.134397471T>A | GRCh37 |
| NC_000009.10:g.133387292T>A | NCBI36 |
| NG_008896.1:g.24183T>A | |
| NG_008896.2:g.24183T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1701T>A | ENSP00000343034.7:p.Cys567Ter | |
| ENST00000404875.7:n.2403T>A | ||
| ENST00000423007.6:c.1920T>A | ENSP00000404119.2:p.Cys640Ter | |
| ENST00000677295.2:c.*2207T>A | ENSP00000504346.2:n.*2207T>A | |
| ENST00000678264.2:c.*2046T>A | ENSP00000503157.2:n.*2046T>A | |
| ENST00000682070.1:n.2291-118T>A | ||
| ENST00000682813.1:n.2267T>A | ||
| ENST00000683392.1:n.4573-118T>A | ||
| ENST00000683712.1:n.2268T>A | ||
| ENST00000683900.1:n.3763T>A | ||
| ENST00000684062.1:n.2529T>A | ||
| ENST00000684579.1:n.3709T>A | ||
| ENST00000684679.1:n.1090T>A | ||
| ENST00000341012.12:c.1701T>A | ENSP00000343034.7:p.Cys567Ter | |
| ENST00000372220.5:c.732T>A | ENSP00000361294.5:p.Cys244Ter | |
| ENST00000372228.9:c.1929T>A | ENSP00000361302.3:p.Cys643Ter | |
| ENST00000402686.8:c.1863T>A MANE Select | ENSP00000385797.4:p.Cys621Ter | |
| ENST00000676640.1:c.1863T>A | ENSP00000503281.1:p.Cys621Ter | |
| ENST00000676803.1:c.924T>A | ENSP00000503093.1:p.Cys308Ter | |
| ENST00000676835.1:c.*1078T>A | ENSP00000502911.1:n.*1078T>A | |
| ENST00000677029.1:c.1407T>A | ENSP00000502936.1:p.Cys469Ter | |
| ENST00000677099.1:c.*1573T>A | ENSP00000504553.1:n.*1573T>A | |
| ENST00000677216.1:c.1512T>A | ENSP00000503772.1:p.Cys504Ter | |
| ENST00000677221.1:n.888T>A | ||
| ENST00000677295.1:c.*1203-118T>A | ENSP00000504346.1:n.*1203-118T>A | |
| ENST00000677444.1:c.1808T>A | ||
| ENST00000677586.1:n.1230T>A | ||
| ENST00000677626.1:c.1512T>A | ENSP00000503552.1:p.Cys504Ter | |
| ENST00000677853.1:c.*871T>A | ENSP00000503488.1:n.*871T>A | |
| ENST00000678202.1:n.1022T>A | ||
| ENST00000678264.1:c.*1240T>A | ENSP00000503157.1:n.*1240T>A | |
| ENST00000678303.1:c.1773T>A | ENSP00000503696.1:p.Cys591Ter | |
| ENST00000678366.1:c.*2112T>A | ENSP00000504353.1:n.*2112T>A | |
| ENST00000678546.1:c.*1808T>A | ENSP00000503062.1:n.*1808T>A | |
| ENST00000678548.1:c.*2002T>A | ENSP00000503934.1:n.*2002T>A | |
| ENST00000678626.1:n.1699T>A | ||
| ENST00000678739.1:c.*2147-118T>A | ENSP00000503806.1:n.*2147-118T>A | |
| ENST00000678833.1:c.*1615T>A | ENSP00000503893.1:n.*1615T>A | |
| ENST00000679023.1:c.1701T>A | ENSP00000503718.1:p.Cys567Ter | |
| ENST00000679076.1:c.1482T>A | ||
| ENST00000679111.1:c.*619T>A | ENSP00000504257.1:n.*619T>A | |
| ENST00000679189.1:c.1512T>A | ENSP00000503356.1:p.Cys504Ter | |
| ENST00000341012.11:c.1701T>A | ENSP00000343034.7:p.Cys567Ter | |
| ENST00000372220.4:c.726T>A | ENSP00000361294.4:p.Cys242Ter | |
| ENST00000372228.7:c.1929T>A | ENSP00000361302.3:p.Cys643Ter | |
| ENST00000402686.7:c.1863T>A | ENSP00000385797.3:p.Cys621Ter | |
| ENST00000404875.6:c.1512T>A | ENSP00000384531.2:p.Cys504Ter | |
| ENST00000423007.5:c.1863T>A | ENSP00000404119.1:p.Cys621Ter | |
| ENST00000485278.5:n.2413T>A | ||
| ENST00000494883.1:n.406T>A | ||
| NM_001077365.1:c.1863T>A | NP_001070833.1:p.Cys621Ter | |
| NM_001077366.1:c.1701T>A | NP_001070834.1:p.Cys567Ter | |
| NM_001136113.1:c.1863T>A | NP_001129585.1:p.Cys621Ter | |
| NM_001136114.1:c.1512T>A | NP_001129586.1:p.Cys504Ter | |
| NM_007171.3:c.1929T>A | NP_009102.3:p.Cys643Ter | |
| XM_005272156.1:c.1929T>A | XP_005272213.1:p.Cys643Ter | |
| XM_005272158.1:c.1767T>A | XP_005272215.1:p.Cys589Ter | |
| XM_005272159.1:c.1578T>A | XP_005272216.1:p.Cys526Ter | |
| XM_005272162.1:c.732T>A | XP_005272219.1:p.Cys244Ter | |
| XM_006716932.1:c.1578T>A | XP_006716995.1:p.Cys526Ter | |
| XM_011518140.1:c.1782T>A | XP_011516442.1:p.Cys594Ter | |
| XM_011518141.1:c.1716T>A | XP_011516443.1:p.Cys572Ter | |
| XM_011518142.1:c.1620T>A | XP_011516444.1:p.Cys540Ter | |
| XM_011518143.1:c.1614T>A | XP_011516445.1:p.Cys538Ter | |
| XM_011518145.1:c.1473T>A | XP_011516447.1:p.Cys491Ter | |
| XM_011518147.1:c.801T>A | XP_011516449.1:p.Cys267Ter | |
| XR_929703.1:n.2105T>A | ||
| NM_001353193.1:c.1929T>A | NP_001340122.1:p.Cys643Ter | |
| NM_001353194.1:c.1701T>A | NP_001340123.1:p.Cys567Ter | |
| NM_001353195.1:c.1512T>A | NP_001340124.1:p.Cys504Ter | |
| NM_001353196.1:c.1773T>A | NP_001340125.1:p.Cys591Ter | |
| NM_001353197.1:c.1767T>A | NP_001340126.1:p.Cys589Ter | |
| NM_001353198.1:c.1767T>A | NP_001340127.1:p.Cys589Ter | |
| NM_001353199.1:c.1578T>A | NP_001340128.1:p.Cys526Ter | |
| NM_001353200.1:c.1407T>A | NP_001340129.1:p.Cys469Ter | |
| NR_148391.1:n.1913T>A | ||
| NR_148392.1:n.2131T>A | ||
| NR_148393.1:n.2052T>A | ||
| NR_148394.1:n.1806T>A | ||
| NR_148395.1:n.2204T>A | ||
| NR_148396.1:n.1838T>A | ||
| NR_148397.1:n.1963T>A | ||
| NR_148398.1:n.1918T>A | ||
| NR_148399.1:n.2444T>A | ||
| NR_148400.1:n.2043T>A | ||
| XM_005272162.3:c.732T>A | XP_005272219.1:p.Cys244Ter | |
| XM_006716932.2:c.1578T>A | XP_006716995.1:p.Cys526Ter | |
| XM_011518140.2:c.1782T>A | XP_011516442.1:p.Cys594Ter | |
| XM_011518141.2:c.1716T>A | XP_011516443.1:p.Cys572Ter | |
| XM_011518142.2:c.1620T>A | XP_011516444.1:p.Cys540Ter | |
| XM_011518143.2:c.1614T>A | XP_011516445.1:p.Cys538Ter | |
| XM_011518145.2:c.1473T>A | XP_011516447.1:p.Cys491Ter | |
| XM_017014205.2:c.732T>A | XP_016869694.1:p.Cys244Ter | |
| XM_024447380.1:c.732T>A | XP_024303148.1:p.Cys244Ter | |
| XM_024447381.1:c.1038T>A | XP_024303149.1:p.Cys346Ter | |
| XM_024447382.1:c.732T>A | XP_024303150.1:p.Cys244Ter | |
| XR_001746160.2:n.2033T>A | ||
| XR_001746162.2:n.2238T>A | ||
| XR_001746164.1:n.1955T>A | ||
| XR_001746166.2:n.2250T>A | ||
| NM_001077365.2:c.1863T>A MANE Select | NP_001070833.1:p.Cys621Ter | |
| NM_001077366.2:c.1701T>A | NP_001070834.1:p.Cys567Ter | |
| NM_001136113.2:c.1863T>A | NP_001129585.1:p.Cys621Ter | |
| NM_001136114.2:c.1512T>A | NP_001129586.1:p.Cys504Ter | |
| NM_001353193.2:c.1929T>A | NP_001340122.2:p.Cys643Ter | |
| NM_001353194.2:c.1701T>A | NP_001340123.1:p.Cys567Ter | |
| NM_001353195.2:c.1512T>A | NP_001340124.1:p.Cys504Ter | |
| NM_001353196.2:c.1773T>A | NP_001340125.1:p.Cys591Ter | |
| NM_001353197.2:c.1767T>A | NP_001340126.2:p.Cys589Ter | |
| NM_001353198.2:c.1767T>A | NP_001340127.2:p.Cys589Ter | |
| NM_001353199.2:c.1578T>A | NP_001340128.2:p.Cys526Ter | |
| NM_001353200.2:c.1407T>A | NP_001340129.1:p.Cys469Ter | |
| NM_001374689.1:c.1851T>A | NP_001361618.1:p.Cys617Ter | |
| NM_001374690.1:c.1644T>A | NP_001361619.1:p.Cys548Ter | |
| NM_001374691.1:c.1512T>A | NP_001361620.1:p.Cys504Ter | |
| NM_001374692.1:c.1512T>A | NP_001361621.1:p.Cys504Ter | |
| NM_001374693.1:c.1512T>A | NP_001361622.1:p.Cys504Ter | |
| NM_001374695.1:c.1473T>A | NP_001361624.1:p.Cys491Ter | |
| NM_007171.4:c.1929T>A | NP_009102.4:p.Cys643Ter | |
| NR_148391.2:n.1897T>A | ||
| NR_148392.2:n.2115T>A | ||
| NR_148393.2:n.2036T>A | ||
| NR_148394.2:n.1790T>A | ||
| NR_148395.2:n.2188T>A | ||
| NR_148396.2:n.1822T>A | ||
| NR_148397.2:n.1947T>A | ||
| NR_148398.2:n.1902T>A | ||
| NR_148399.2:n.2428T>A | ||
| NR_148400.2:n.2027T>A |