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.89014119A= , CM000672.2:g.89014119A= | GRCh38 |
| NC_000010.10:g.90773876A= , CM000672.1:g.90773876A= | GRCh37 |
| NC_000010.9:g.90763856A= | NCBI36 |
| NG_009089.2:g.28589A= , LRG_134:g.28589A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.986A= | ||
| ENST00000355740.8:c.594A= | ENSP00000347979.3:p.Ter198= | |
| ENST00000357339.7:c.614A= | ENSP00000349896.2:p.Asp205= | |
| ENST00000371857.8:n.2222A= | ||
| ENST00000460510.6:c.-41A= | ENSP00000512812.1:n.-41A= | |
| ENST00000466081.6:n.2326A= | ||
| ENST00000477270.6:c.722A= | ENSP00000512813.1:p.Asp241= | |
| ENST00000479522.6:c.*106A= | ENSP00000424113.1:n.*106A= | |
| ENST00000484444.6:c.*118A= | ENSP00000420975.1:n.*118A= | |
| ENST00000488877.6:c.568A= | ENSP00000425159.1:n.568A= | |
| ENST00000492756.7:c.*106A= | ENSP00000422453.1:n.*106A= | |
| ENST00000494799.6:c.-41A= | ENSP00000512834.1:n.-41A= | |
| ENST00000562983.3:c.-41A= | ENSP00000512845.1:n.-41A= | |
| ENST00000612663.6:c.*79A= | ENSP00000477997.3:n.*79A= | |
| ENST00000640140.2:n.822A= | ||
| ENST00000640250.2:n.176A= | ||
| ENST00000640681.2:n.781A= | ||
| ENST00000696723.1:n.4310A= | ||
| ENST00000696741.1:n.2315A= | ||
| ENST00000696742.1:n.2042A= | ||
| ENST00000696743.1:n.3445A= | ||
| ENST00000696744.1:n.716A= | ||
| ENST00000696767.1:n.1011A= | ||
| ENST00000696768.1:c.531A= | ENSP00000512859.1:p.Ter177= | |
| ENST00000696769.1:n.2366A= | ||
| ENST00000696771.1:c.-41A= | ENSP00000512860.1:n.-41A= | |
| ENST00000696772.1:n.2280A= | ||
| ENST00000696773.1:n.2019A= | ||
| ENST00000696774.1:n.5787A= | ||
| ENST00000696776.1:c.770A= | ENSP00000512861.1:p.Asp257= | |
| ENST00000696777.1:n.2085A= | ||
| ENST00000696778.1:n.1113A= | ||
| ENST00000696779.1:c.284A= | ENSP00000512862.1:p.Asp95= | |
| ENST00000696780.1:c.707A= | ENSP00000512863.1:p.Asp236= | |
| ENST00000696781.1:c.422A= | ENSP00000512864.1:p.Asp141= | |
| ENST00000696782.1:c.*79A= | ENSP00000512865.1:n.*79A= | |
| ENST00000696783.1:n.2545A= | ||
| ENST00000696992.1:n.1794A= | ||
| ENST00000696995.1:n.4206A= | ||
| ENST00000696996.1:n.2119A= | ||
| ENST00000696997.1:c.*307A= | ENSP00000513028.1:n.*307A= | |
| ENST00000696998.1:n.1931A= | ||
| ENST00000696999.1:c.-41A= | ENSP00000513029.1:n.-41A= | |
| ENST00000697035.1:c.*10A= | ENSP00000513059.1:n.*10A= | |
| ENST00000697036.1:c.*93A= | ENSP00000513060.1:n.*93A= | |
| ENST00000697037.1:n.712A= | ||
| ENST00000697093.1:n.2913A= | ||
| ENST00000697094.1:n.3260A= | ||
| ENST00000697095.1:c.*1878A= | ENSP00000513104.1:n.*1878A= | |
| ENST00000697096.1:n.1810A= | ||
| ENST00000697097.1:c.-41A= | ENSP00000513105.1:n.-41A= | |
| ENST00000562983.2:n.863A= | ||
| ENST00000690268.1:c.758A= | ENSP00000509810.1:p.Asp253= | |
| ENST00000355740.7:c.*3A= | ENSP00000347979.3:n.*3A= | |
| ENST00000612663.5:c.*79A= | ENSP00000477997.3:n.*79A= | |
| ENST00000640140.1:n.849A= | ||
| ENST00000640250.1:n.176A= | ||
| ENST00000640681.1:n.798A= | ||
| ENST00000652046.1:c.677A= MANE Select | ENSP00000498466.1:p.Asp226= | |
| ENST00000313771.9:n.986A= | ||
| ENST00000352159.8:c.696A= | ENSP00000345601.4:p.Arg232= | |
| ENST00000355279.2:c.652A= | ENSP00000347426.2:p.Met218= | |
| ENST00000355740.6:c.677A= | ENSP00000347979.2:p.Asp226= | |
| ENST00000357339.6:c.614A= | ENSP00000349896.2:p.Asp205= | |
| ENST00000479522.5:c.*106A= | ENSP00000424113.1:n.*106A= | |
| ENST00000484444.5:c.*118A= | ENSP00000420975.1:n.*118A= | |
| ENST00000488877.5:c.*118A= | ENSP00000425159.1:n.*118A= | |
| ENST00000492756.5:c.505A= | ENSP00000422453.1:n.505A= | |
| ENST00000494410.5:c.*35A= | ENSP00000423755.1:n.*35A= | |
| ENST00000494799.5:n.584A= | ||
| ENST00000612663.4:c.*24A= | ENSP00000477997.2:n.*24A= | |
| ENST00000615406.4:c.677A= | ENSP00000484575.1:p.Asp226= | |
| ENST00000626542.2:c.677A= | ENSP00000485876.1:p.Asp226= | |
| NM_000043.4:c.677A= , LRG_134t1:c.677A= | NP_000034.1:p.Asp226= | |
| NM_152871.2:c.614A= | NP_690610.1:p.Asp205= | |
| NM_152872.2:c.652A= | NP_690611.1:p.Met218= | |
| NR_028033.2:n.851A= | ||
| NR_028034.2:n.713A= | ||
| NR_028035.2:n.776A= | ||
| NR_028036.2:n.914A= | ||
| XM_006717819.2:c.758A= | XP_006717882.1:p.Asp253= | |
| XM_011539764.1:c.839A= | XP_011538066.1:p.Asp280= | |
| XM_011539765.1:c.776A= | XP_011538067.1:p.Asp259= | |
| XM_011539766.1:c.758A= | XP_011538068.1:p.Asp253= | |
| XM_011539767.1:c.722A= | XP_011538069.1:p.Asp241= | |
| XR_945732.1:n.745A= | ||
| XR_945733.1:n.682A= | ||
| NM_000043.5:c.677A= | NP_000034.1:p.Asp226= | |
| NM_001320619.1:c.594A= | NP_001307548.1:p.Ter198= | |
| NM_152871.3:c.614A= | NP_690610.1:p.Asp205= | |
| NM_152872.3:c.652A= | NP_690611.1:p.Met218= | |
| NR_028033.3:n.823A= | ||
| NR_028034.3:n.685A= | ||
| NR_028035.3:n.748A= | ||
| NR_028036.3:n.886A= | ||
| NR_135313.1:n.803A= | ||
| NR_135314.1:n.986A= | ||
| NR_135315.1:n.739A= | ||
| XM_006717819.3:c.758A= | XP_006717882.1:p.Asp253= | |
| XM_011539764.2:c.839A= | XP_011538066.1:p.Asp280= | |
| XM_011539765.2:c.776A= | XP_011538067.1:p.Asp259= | |
| XM_011539766.2:c.758A= | XP_011538068.1:p.Asp253= | |
| XM_011539767.3:c.722A= | XP_011538069.1:p.Asp241= | |
| XR_945732.3:n.745A= | ||
| XR_945733.2:n.682A= | ||
| NM_000043.6:c.677A= MANE Select | NP_000034.1:p.Asp226= | |
| NM_001320619.2:c.594A= | NP_001307548.1:p.Ter198= | |
| NM_152871.4:c.614A= | NP_690610.1:p.Asp205= | |
| NM_152872.4:c.652A= | NP_690611.1:p.Met218= | |
| NR_028033.4:n.584A= | ||
| NR_028034.4:n.446A= | ||
| NR_028035.4:n.509A= | ||
| NR_028036.4:n.647A= | ||
| NR_135313.2:n.564A= | ||
| NR_135314.2:n.843A= | ||
| NR_135315.2:n.596A= |