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.131518500T>C , CM000671.2:g.131518500T>C | GRCh38 |
| NC_000009.11:g.134393887T>C , CM000671.1:g.134393887T>C | GRCh37 |
| NC_000009.10:g.133383708T>C | NCBI36 |
| NG_008896.1:g.20599T>C | |
| NG_008896.2:g.20599T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1166T>C | ENSP00000343034.7:p.Val389Ala | |
| ENST00000404875.7:n.1868T>C | ||
| ENST00000423007.6:c.1385T>C | ENSP00000404119.2:p.Val462Ala | |
| ENST00000677295.2:c.*1672T>C | ENSP00000504346.2:n.*1672T>C | |
| ENST00000678264.2:c.*1511T>C | ENSP00000503157.2:n.*1511T>C | |
| ENST00000682070.1:n.1793T>C | ||
| ENST00000682535.1:n.100T>C | ||
| ENST00000682539.1:c.266T>C | ||
| ENST00000682813.1:n.1593T>C | ||
| ENST00000683110.1:n.56T>C | ||
| ENST00000683392.1:n.4075T>C | ||
| ENST00000683712.1:n.1733T>C | ||
| ENST00000683900.1:n.3228T>C | ||
| ENST00000684062.1:n.1994T>C | ||
| ENST00000684579.1:n.3174T>C | ||
| ENST00000684679.1:n.555T>C | ||
| ENST00000341012.12:c.1166T>C | ENSP00000343034.7:p.Val389Ala | |
| ENST00000372220.5:c.197T>C | ENSP00000361294.5:p.Val66Ala | |
| ENST00000372228.9:c.1394T>C | ENSP00000361302.3:p.Val465Ala | |
| ENST00000402686.8:c.1328T>C MANE Select | ENSP00000385797.4:p.Val443Ala | |
| ENST00000676640.1:c.1328T>C | ENSP00000503281.1:p.Val443Ala | |
| ENST00000676803.1:c.503T>C | ENSP00000503093.1:p.Val168Ala | |
| ENST00000676835.1:c.*543T>C | ENSP00000502911.1:n.*543T>C | |
| ENST00000677029.1:c.872T>C | ENSP00000502936.1:p.Val291Ala | |
| ENST00000677099.1:c.*1038T>C | ENSP00000504553.1:n.*1038T>C | |
| ENST00000677216.1:c.977T>C | ENSP00000503772.1:p.Val326Ala | |
| ENST00000677221.1:n.353T>C | ||
| ENST00000677295.1:c.*705T>C | ENSP00000504346.1:n.*705T>C | |
| ENST00000677444.1:c.1134T>C | ||
| ENST00000677586.1:n.809T>C | ||
| ENST00000677626.1:c.977T>C | ENSP00000503552.1:p.Val326Ala | |
| ENST00000677677.1:n.1288T>C | ||
| ENST00000677853.1:c.*336T>C | ENSP00000503488.1:n.*336T>C | |
| ENST00000677983.1:n.417T>C | ||
| ENST00000678202.1:n.348T>C | ||
| ENST00000678264.1:c.*705T>C | ENSP00000503157.1:n.*705T>C | |
| ENST00000678303.1:c.1238T>C | ENSP00000503696.1:p.Val413Ala | |
| ENST00000678366.1:c.*1577T>C | ENSP00000504353.1:n.*1577T>C | |
| ENST00000678546.1:c.*1273T>C | ENSP00000503062.1:n.*1273T>C | |
| ENST00000678548.1:c.*1400T>C | ENSP00000503934.1:n.*1400T>C | |
| ENST00000678626.1:n.1025T>C | ||
| ENST00000678733.1:c.409T>C | ||
| ENST00000678739.1:c.*1654T>C | ENSP00000503806.1:n.*1654T>C | |
| ENST00000678795.1:n.415T>C | ||
| ENST00000678833.1:c.*775T>C | ENSP00000503893.1:n.*775T>C | |
| ENST00000678942.1:c.508T>C | ENSP00000504690.1:n.508T>C | |
| ENST00000679023.1:c.1166T>C | ENSP00000503718.1:p.Val389Ala | |
| ENST00000679076.1:c.947T>C | ||
| ENST00000679111.1:c.1328T>C | ENSP00000504257.1:p.Val443Ala | |
| ENST00000679189.1:c.977T>C | ENSP00000503356.1:p.Val326Ala | |
| ENST00000341012.11:c.1166T>C | ENSP00000343034.7:p.Val389Ala | |
| ENST00000372220.4:c.191T>C | ENSP00000361294.4:p.Val64Ala | |
| ENST00000372228.7:c.1394T>C | ENSP00000361302.3:p.Val465Ala | |
| ENST00000402686.7:c.1328T>C | ENSP00000385797.3:p.Val443Ala | |
| ENST00000404875.6:c.977T>C | ENSP00000384531.2:p.Val326Ala | |
| ENST00000423007.5:c.1328T>C | ENSP00000404119.1:p.Val443Ala | |
| ENST00000485278.5:n.1883T>C | ||
| NM_001077365.1:c.1328T>C | NP_001070833.1:p.Val443Ala | |
| NM_001077366.1:c.1166T>C | NP_001070834.1:p.Val389Ala | |
| NM_001136113.1:c.1328T>C | NP_001129585.1:p.Val443Ala | |
| NM_001136114.1:c.977T>C | NP_001129586.1:p.Val326Ala | |
| NM_007171.3:c.1394T>C | NP_009102.3:p.Val465Ala | |
| XM_005272156.1:c.1394T>C | XP_005272213.1:p.Val465Ala | |
| XM_005272158.1:c.1232T>C | XP_005272215.1:p.Val411Ala | |
| XM_005272159.1:c.1043T>C | XP_005272216.1:p.Val348Ala | |
| XM_005272162.1:c.197T>C | XP_005272219.1:p.Val66Ala | |
| XM_006716932.1:c.1043T>C | XP_006716995.1:p.Val348Ala | |
| XM_011518140.1:c.1247T>C | XP_011516442.1:p.Val416Ala | |
| XM_011518141.1:c.1181T>C | XP_011516443.1:p.Val394Ala | |
| XM_011518142.1:c.1085T>C | XP_011516444.1:p.Val362Ala | |
| XM_011518143.1:c.1079T>C | XP_011516445.1:p.Val360Ala | |
| XM_011518144.1:c.1394T>C | XP_011516446.1:p.Val465Ala | |
| XM_011518145.1:c.938T>C | XP_011516447.1:p.Val313Ala | |
| XM_011518146.1:c.1079T>C | XP_011516448.1:p.Val360Ala | |
| XM_011518147.1:c.266T>C | XP_011516449.1:p.Val89Ala | |
| XR_929703.1:n.1570T>C | ||
| NM_001353193.1:c.1394T>C | NP_001340122.1:p.Val465Ala | |
| NM_001353194.1:c.1166T>C | NP_001340123.1:p.Val389Ala | |
| NM_001353195.1:c.977T>C | NP_001340124.1:p.Val326Ala | |
| NM_001353196.1:c.1238T>C | NP_001340125.1:p.Val413Ala | |
| NM_001353197.1:c.1232T>C | NP_001340126.1:p.Val411Ala | |
| NM_001353198.1:c.1232T>C | NP_001340127.1:p.Val411Ala | |
| NM_001353199.1:c.1043T>C | NP_001340128.1:p.Val348Ala | |
| NM_001353200.1:c.872T>C | NP_001340129.1:p.Val291Ala | |
| NR_148391.1:n.1378T>C | ||
| NR_148392.1:n.1596T>C | ||
| NR_148393.1:n.1378T>C | ||
| NR_148394.1:n.1271T>C | ||
| NR_148395.1:n.1530T>C | ||
| NR_148396.1:n.1164T>C | ||
| NR_148397.1:n.1428T>C | ||
| NR_148398.1:n.1383T>C | ||
| NR_148399.1:n.1770T>C | ||
| NR_148400.1:n.1369T>C | ||
| XM_005272162.3:c.197T>C | XP_005272219.1:p.Val66Ala | |
| XM_006716932.2:c.1043T>C | XP_006716995.1:p.Val348Ala | |
| XM_011518140.2:c.1247T>C | XP_011516442.1:p.Val416Ala | |
| XM_011518141.2:c.1181T>C | XP_011516443.1:p.Val394Ala | |
| XM_011518142.2:c.1085T>C | XP_011516444.1:p.Val362Ala | |
| XM_011518143.2:c.1079T>C | XP_011516445.1:p.Val360Ala | |
| XM_011518145.2:c.938T>C | XP_011516447.1:p.Val313Ala | |
| XM_017014205.2:c.197T>C | XP_016869694.1:p.Val66Ala | |
| XM_024447380.1:c.197T>C | XP_024303148.1:p.Val66Ala | |
| XM_024447381.1:c.503T>C | XP_024303149.1:p.Val168Ala | |
| XM_024447382.1:c.197T>C | XP_024303150.1:p.Val66Ala | |
| XR_001746160.2:n.1498T>C | ||
| XR_001746162.2:n.1564T>C | ||
| XR_001746164.1:n.1281T>C | ||
| XR_001746166.2:n.1715T>C | ||
| NM_001077365.2:c.1328T>C MANE Select | NP_001070833.1:p.Val443Ala | |
| NM_001077366.2:c.1166T>C | NP_001070834.1:p.Val389Ala | |
| NM_001136113.2:c.1328T>C | NP_001129585.1:p.Val443Ala | |
| NM_001136114.2:c.977T>C | NP_001129586.1:p.Val326Ala | |
| NM_001353193.2:c.1394T>C | NP_001340122.2:p.Val465Ala | |
| NM_001353194.2:c.1166T>C | NP_001340123.1:p.Val389Ala | |
| NM_001353195.2:c.977T>C | NP_001340124.1:p.Val326Ala | |
| NM_001353196.2:c.1238T>C | NP_001340125.1:p.Val413Ala | |
| NM_001353197.2:c.1232T>C | NP_001340126.2:p.Val411Ala | |
| NM_001353198.2:c.1232T>C | NP_001340127.2:p.Val411Ala | |
| NM_001353199.2:c.1043T>C | NP_001340128.2:p.Val348Ala | |
| NM_001353200.2:c.872T>C | NP_001340129.1:p.Val291Ala | |
| NM_001374689.1:c.1316T>C | NP_001361618.1:p.Val439Ala | |
| NM_001374690.1:c.1328T>C | NP_001361619.1:p.Val443Ala | |
| NM_001374691.1:c.977T>C | NP_001361620.1:p.Val326Ala | |
| NM_001374692.1:c.977T>C | NP_001361621.1:p.Val326Ala | |
| NM_001374693.1:c.977T>C | NP_001361622.1:p.Val326Ala | |
| NM_001374695.1:c.938T>C | NP_001361624.1:p.Val313Ala | |
| NM_007171.4:c.1394T>C | NP_009102.4:p.Val465Ala | |
| NR_148391.2:n.1362T>C | ||
| NR_148392.2:n.1580T>C | ||
| NR_148393.2:n.1362T>C | ||
| NR_148394.2:n.1255T>C | ||
| NR_148395.2:n.1514T>C | ||
| NR_148396.2:n.1148T>C | ||
| NR_148397.2:n.1412T>C | ||
| NR_148398.2:n.1367T>C | ||
| NR_148399.2:n.1754T>C | ||
| NR_148400.2:n.1353T>C |