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.89014163A= , CM000672.2:g.89014163A= | GRCh38 |
| NC_000010.10:g.90773920A= , CM000672.1:g.90773920A= | GRCh37 |
| NC_000010.9:g.90763900A= | NCBI36 |
| NG_009089.2:g.28633A= , LRG_134:g.28633A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1030A= | ||
| ENST00000355740.8:c.*44A= | ENSP00000347979.3:n.*44A= | |
| ENST00000357339.7:c.658A= | ENSP00000349896.2:p.Thr220= | |
| ENST00000371857.8:n.2266A= | ||
| ENST00000460510.6:c.4A= | ENSP00000512812.1:p.Thr2= | |
| ENST00000466081.6:n.2370A= | ||
| ENST00000477270.6:c.766A= | ENSP00000512813.1:p.Thr256= | |
| ENST00000479522.6:c.*150A= | ENSP00000424113.1:n.*150A= | |
| ENST00000484444.6:c.*162A= | ENSP00000420975.1:n.*162A= | |
| ENST00000488877.6:c.612A= | ENSP00000425159.1:n.612A= | |
| ENST00000492756.7:c.*150A= | ENSP00000422453.1:n.*150A= | |
| ENST00000494799.6:c.4A= | ENSP00000512834.1:p.Thr2= | |
| ENST00000562983.3:c.4A= | ENSP00000512845.1:p.Thr2= | |
| ENST00000612663.6:c.*123A= | ENSP00000477997.3:n.*123A= | |
| ENST00000640140.2:n.866A= | ||
| ENST00000640250.2:n.220A= | ||
| ENST00000640681.2:n.825A= | ||
| ENST00000696723.1:n.4354A= | ||
| ENST00000696741.1:n.2359A= | ||
| ENST00000696742.1:n.2086A= | ||
| ENST00000696743.1:n.3489A= | ||
| ENST00000696744.1:n.760A= | ||
| ENST00000696767.1:n.1055A= | ||
| ENST00000696768.1:c.*44A= | ENSP00000512859.1:n.*44A= | |
| ENST00000696769.1:n.2410A= | ||
| ENST00000696771.1:c.4A= | ENSP00000512860.1:p.Thr2= | |
| ENST00000696772.1:n.2324A= | ||
| ENST00000696773.1:n.2063A= | ||
| ENST00000696774.1:n.5831A= | ||
| ENST00000696776.1:c.814A= | ENSP00000512861.1:p.Thr272= | |
| ENST00000696777.1:n.2129A= | ||
| ENST00000696778.1:n.1157A= | ||
| ENST00000696779.1:c.328A= | ENSP00000512862.1:p.Thr110= | |
| ENST00000696780.1:c.751A= | ENSP00000512863.1:p.Thr251= | |
| ENST00000696781.1:c.466A= | ENSP00000512864.1:p.Thr156= | |
| ENST00000696782.1:c.*123A= | ENSP00000512865.1:n.*123A= | |
| ENST00000696783.1:n.2589A= | ||
| ENST00000696992.1:n.1838A= | ||
| ENST00000696995.1:n.4250A= | ||
| ENST00000696996.1:n.2163A= | ||
| ENST00000696997.1:c.*351A= | ENSP00000513028.1:n.*351A= | |
| ENST00000696998.1:n.1975A= | ||
| ENST00000696999.1:c.4A= | ENSP00000513029.1:p.Thr2= | |
| ENST00000697035.1:c.*54A= | ENSP00000513059.1:n.*54A= | |
| ENST00000697036.1:c.*137A= | ENSP00000513060.1:n.*137A= | |
| ENST00000697037.1:n.756A= | ||
| ENST00000697093.1:n.2957A= | ||
| ENST00000697094.1:n.3304A= | ||
| ENST00000697095.1:c.*1922A= | ENSP00000513104.1:n.*1922A= | |
| ENST00000697096.1:n.1854A= | ||
| ENST00000697097.1:c.4A= | ENSP00000513105.1:p.Thr2= | |
| ENST00000562983.2:n.907A= | ||
| ENST00000690268.1:c.802A= | ENSP00000509810.1:p.Thr268= | |
| ENST00000355740.7:c.*47A= | ENSP00000347979.3:n.*47A= | |
| ENST00000612663.5:c.*123A= | ENSP00000477997.3:n.*123A= | |
| ENST00000640140.1:n.893A= | ||
| ENST00000640250.1:n.220A= | ||
| ENST00000640681.1:n.842A= | ||
| ENST00000652046.1:c.721A= MANE Select | ENSP00000498466.1:p.Thr241= | |
| ENST00000313771.9:n.1030A= | ||
| ENST00000352159.8:c.*38A= | ENSP00000345601.4:n.*38A= | |
| ENST00000355279.2:c.696A= | ENSP00000347426.2:n.696A= | |
| ENST00000355740.6:c.721A= | ENSP00000347979.2:p.Thr241= | |
| ENST00000357339.6:c.658A= | ENSP00000349896.2:p.Thr220= | |
| ENST00000479522.5:c.*150A= | ENSP00000424113.1:n.*150A= | |
| ENST00000484444.5:c.*162A= | ENSP00000420975.1:n.*162A= | |
| ENST00000488877.5:c.*162A= | ENSP00000425159.1:n.*162A= | |
| ENST00000492756.5:c.549A= | ENSP00000422453.1:n.549A= | |
| ENST00000494410.5:c.*79A= | ENSP00000423755.1:n.*79A= | |
| ENST00000494799.5:n.628A= | ||
| ENST00000612663.4:c.*68A= | ENSP00000477997.2:n.*68A= | |
| ENST00000615406.4:c.721A= | ENSP00000484575.1:p.Thr241= | |
| ENST00000626542.2:c.719A= | ENSP00000485876.1:p.Asp240= | |
| NM_000043.4:c.721A= , LRG_134t1:c.721A= | NP_000034.1:p.Thr241= | |
| NM_152871.2:c.658A= | NP_690610.1:p.Thr220= | |
| NM_152872.2:c.*33A= | NP_690611.1:n.*33A= | |
| NR_028033.2:n.895A= | ||
| NR_028034.2:n.757A= | ||
| NR_028035.2:n.820A= | ||
| NR_028036.2:n.958A= | ||
| XM_006717819.2:c.802A= | XP_006717882.1:p.Thr268= | |
| XM_011539764.1:c.883A= | XP_011538066.1:p.Thr295= | |
| XM_011539765.1:c.820A= | XP_011538067.1:p.Thr274= | |
| XM_011539766.1:c.802A= | XP_011538068.1:p.Thr268= | |
| XM_011539767.1:c.766A= | XP_011538069.1:p.Thr256= | |
| XR_945732.1:n.789A= | ||
| XR_945733.1:n.726A= | ||
| NM_000043.5:c.721A= | NP_000034.1:p.Thr241= | |
| NM_001320619.1:c.*44A= | NP_001307548.1:n.*44A= | |
| NM_152871.3:c.658A= | NP_690610.1:p.Thr220= | |
| NM_152872.3:c.*33A= | NP_690611.1:n.*33A= | |
| NR_028033.3:n.867A= | ||
| NR_028034.3:n.729A= | ||
| NR_028035.3:n.792A= | ||
| NR_028036.3:n.930A= | ||
| NR_135313.1:n.847A= | ||
| NR_135314.1:n.1030A= | ||
| NR_135315.1:n.783A= | ||
| XM_006717819.3:c.802A= | XP_006717882.1:p.Thr268= | |
| XM_011539764.2:c.883A= | XP_011538066.1:p.Thr295= | |
| XM_011539765.2:c.820A= | XP_011538067.1:p.Thr274= | |
| XM_011539766.2:c.802A= | XP_011538068.1:p.Thr268= | |
| XM_011539767.3:c.766A= | XP_011538069.1:p.Thr256= | |
| XR_945732.3:n.789A= | ||
| XR_945733.2:n.726A= | ||
| NM_000043.6:c.721A= MANE Select | NP_000034.1:p.Thr241= | |
| NM_001320619.2:c.*44A= | NP_001307548.1:n.*44A= | |
| NM_152871.4:c.658A= | NP_690610.1:p.Thr220= | |
| NM_152872.4:c.*33A= | NP_690611.1:n.*33A= | |
| NR_028033.4:n.628A= | ||
| NR_028034.4:n.490A= | ||
| NR_028035.4:n.553A= | ||
| NR_028036.4:n.691A= | ||
| NR_135313.2:n.608A= | ||
| NR_135314.2:n.887A= | ||
| NR_135315.2:n.640A= |