SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014321A= , CM000672.2:g.89014321A= | GRCh38 |
| NC_000010.10:g.90774078A= , CM000672.1:g.90774078A= | GRCh37 |
| NC_000010.9:g.90764058A= | NCBI36 |
| NG_009089.2:g.28791A= , LRG_134:g.28791A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1188A= | ||
| ENST00000355740.8:c.*202A= | ENSP00000347979.3:n.*202A= | |
| ENST00000357339.7:c.816A= | ENSP00000349896.2:p.Thr272= | |
| ENST00000371857.8:n.2424A= | ||
| ENST00000460510.6:c.162A= | ENSP00000512812.1:p.Thr54= | |
| ENST00000466081.6:n.2528A= | ||
| ENST00000477270.6:c.924A= | ENSP00000512813.1:p.Thr308= | |
| ENST00000479522.6:c.*308A= | ENSP00000424113.1:n.*308A= | |
| ENST00000484444.6:c.*320A= | ENSP00000420975.1:n.*320A= | |
| ENST00000488877.6:c.770A= | ENSP00000425159.1:n.770A= | |
| ENST00000492756.7:c.*308A= | ENSP00000422453.1:n.*308A= | |
| ENST00000494799.6:c.162A= | ENSP00000512834.1:p.Thr54= | |
| ENST00000562983.3:c.162A= | ENSP00000512845.1:p.Thr54= | |
| ENST00000612663.6:c.*281A= | ENSP00000477997.3:n.*281A= | |
| ENST00000640140.2:n.1024A= | ||
| ENST00000640250.2:n.378A= | ||
| ENST00000640681.2:n.983A= | ||
| ENST00000696723.1:n.4512A= | ||
| ENST00000696741.1:n.2517A= | ||
| ENST00000696742.1:n.2244A= | ||
| ENST00000696743.1:n.3647A= | ||
| ENST00000696744.1:n.918A= | ||
| ENST00000696767.1:n.1213A= | ||
| ENST00000696768.1:c.*202A= | ENSP00000512859.1:n.*202A= | |
| ENST00000696769.1:n.2568A= | ||
| ENST00000696771.1:c.162A= | ENSP00000512860.1:p.Thr54= | |
| ENST00000696772.1:n.2482A= | ||
| ENST00000696773.1:n.2221A= | ||
| ENST00000696774.1:n.5989A= | ||
| ENST00000696776.1:c.972A= | ENSP00000512861.1:p.Thr324= | |
| ENST00000696777.1:n.2287A= | ||
| ENST00000696778.1:n.1315A= | ||
| ENST00000696779.1:c.486A= | ENSP00000512862.1:p.Thr162= | |
| ENST00000696780.1:c.909A= | ENSP00000512863.1:p.Thr303= | |
| ENST00000696781.1:c.624A= | ENSP00000512864.1:p.Thr208= | |
| ENST00000696782.1:c.*281A= | ENSP00000512865.1:n.*281A= | |
| ENST00000696783.1:n.2747A= | ||
| ENST00000696992.1:n.1996A= | ||
| ENST00000696995.1:n.4408A= | ||
| ENST00000696996.1:n.2321A= | ||
| ENST00000696997.1:c.*509A= | ENSP00000513028.1:n.*509A= | |
| ENST00000696998.1:n.2133A= | ||
| ENST00000696999.1:c.162A= | ENSP00000513029.1:p.Thr54= | |
| ENST00000697036.1:c.*295A= | ENSP00000513060.1:n.*295A= | |
| ENST00000697037.1:n.914A= | ||
| ENST00000697093.1:n.3115A= | ||
| ENST00000697094.1:n.3462A= | ||
| ENST00000697095.1:c.*2080A= | ENSP00000513104.1:n.*2080A= | |
| ENST00000697096.1:n.2012A= | ||
| ENST00000697097.1:c.162A= | ENSP00000513105.1:p.Thr54= | |
| ENST00000562983.2:n.1065A= | ||
| ENST00000690268.1:c.960A= | ENSP00000509810.1:p.Thr320= | |
| ENST00000355740.7:c.*205A= | ENSP00000347979.3:n.*205A= | |
| ENST00000612663.5:c.*281A= | ENSP00000477997.3:n.*281A= | |
| ENST00000640140.1:n.1051A= | ||
| ENST00000640250.1:n.378A= | ||
| ENST00000640681.1:n.1000A= | ||
| ENST00000652046.1:c.879A= MANE Select | ENSP00000498466.1:p.Thr293= | |
| ENST00000352159.8:c.*196A= | ENSP00000345601.4:n.*196A= | |
| ENST00000355279.2:c.854A= | ENSP00000347426.2:n.854A= | |
| ENST00000355740.6:c.879A= | ENSP00000347979.2:p.Thr293= | |
| ENST00000357339.6:c.816A= | ENSP00000349896.2:p.Thr272= | |
| ENST00000479522.5:c.*308A= | ENSP00000424113.1:n.*308A= | |
| ENST00000484444.5:c.*320A= | ENSP00000420975.1:n.*320A= | |
| ENST00000488877.5:c.*320A= | ENSP00000425159.1:n.*320A= | |
| ENST00000492756.5:c.707A= | ENSP00000422453.1:n.707A= | |
| ENST00000494410.5:c.*237A= | ENSP00000423755.1:n.*237A= | |
| ENST00000612663.4:c.*226A= | ENSP00000477997.2:n.*226A= | |
| NM_000043.4:c.879A= , LRG_134t1:c.879A= | NP_000034.1:p.Thr293= | |
| NM_152871.2:c.816A= | NP_690610.1:p.Thr272= | |
| NM_152872.2:c.*191A= | NP_690611.1:n.*191A= | |
| NR_028033.2:n.1053A= | ||
| NR_028034.2:n.915A= | ||
| NR_028035.2:n.978A= | ||
| NR_028036.2:n.1116A= | ||
| XM_006717819.2:c.960A= | XP_006717882.1:p.Thr320= | |
| XM_011539764.1:c.1041A= | XP_011538066.1:p.Thr347= | |
| XM_011539765.1:c.978A= | XP_011538067.1:p.Thr326= | |
| XM_011539766.1:c.960A= | XP_011538068.1:p.Thr320= | |
| XM_011539767.1:c.924A= | XP_011538069.1:p.Thr308= | |
| XR_945732.1:n.947A= | ||
| XR_945733.1:n.884A= | ||
| NM_000043.5:c.879A= | NP_000034.1:p.Thr293= | |
| NM_001320619.1:c.*202A= | NP_001307548.1:n.*202A= | |
| NM_152871.3:c.816A= | NP_690610.1:p.Thr272= | |
| NM_152872.3:c.*191A= | NP_690611.1:n.*191A= | |
| NR_028033.3:n.1025A= | ||
| NR_028034.3:n.887A= | ||
| NR_028035.3:n.950A= | ||
| NR_028036.3:n.1088A= | ||
| NR_135313.1:n.1005A= | ||
| NR_135314.1:n.1188A= | ||
| NR_135315.1:n.941A= | ||
| XM_006717819.3:c.960A= | XP_006717882.1:p.Thr320= | |
| XM_011539764.2:c.1041A= | XP_011538066.1:p.Thr347= | |
| XM_011539765.2:c.978A= | XP_011538067.1:p.Thr326= | |
| XM_011539766.2:c.960A= | XP_011538068.1:p.Thr320= | |
| XM_011539767.3:c.924A= | XP_011538069.1:p.Thr308= | |
| XR_945732.3:n.947A= | ||
| XR_945733.2:n.884A= | ||
| NM_000043.6:c.879A= MANE Select | NP_000034.1:p.Thr293= | |
| NM_001320619.2:c.*202A= | NP_001307548.1:n.*202A= | |
| NM_152871.4:c.816A= | NP_690610.1:p.Thr272= | |
| NM_152872.4:c.*191A= | NP_690611.1:n.*191A= | |
| NR_028033.4:n.786A= | ||
| NR_028034.4:n.648A= | ||
| NR_028035.4:n.711A= | ||
| NR_028036.4:n.849A= | ||
| NR_135313.2:n.766A= | ||
| NR_135314.2:n.1045A= | ||
| NR_135315.2:n.798A= |