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.89014306A= , CM000672.2:g.89014306A= | GRCh38 |
| NC_000010.10:g.90774063A= , CM000672.1:g.90774063A= | GRCh37 |
| NC_000010.9:g.90764043A= | NCBI36 |
| NG_009089.2:g.28776A= , LRG_134:g.28776A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1173A= | ||
| ENST00000355740.8:c.*187A= | ENSP00000347979.3:n.*187A= | |
| ENST00000357339.7:c.801A= | ENSP00000349896.2:p.Lys267= | |
| ENST00000371857.8:n.2409A= | ||
| ENST00000460510.6:c.147A= | ENSP00000512812.1:p.Lys49= | |
| ENST00000466081.6:n.2513A= | ||
| ENST00000477270.6:c.909A= | ENSP00000512813.1:p.Lys303= | |
| ENST00000479522.6:c.*293A= | ENSP00000424113.1:n.*293A= | |
| ENST00000484444.6:c.*305A= | ENSP00000420975.1:n.*305A= | |
| ENST00000488877.6:c.755A= | ENSP00000425159.1:n.755A= | |
| ENST00000492756.7:c.*293A= | ENSP00000422453.1:n.*293A= | |
| ENST00000494799.6:c.147A= | ENSP00000512834.1:p.Lys49= | |
| ENST00000562983.3:c.147A= | ENSP00000512845.1:p.Lys49= | |
| ENST00000612663.6:c.*266A= | ENSP00000477997.3:n.*266A= | |
| ENST00000640140.2:n.1009A= | ||
| ENST00000640250.2:n.363A= | ||
| ENST00000640681.2:n.968A= | ||
| ENST00000696723.1:n.4497A= | ||
| ENST00000696741.1:n.2502A= | ||
| ENST00000696742.1:n.2229A= | ||
| ENST00000696743.1:n.3632A= | ||
| ENST00000696744.1:n.903A= | ||
| ENST00000696767.1:n.1198A= | ||
| ENST00000696768.1:c.*187A= | ENSP00000512859.1:n.*187A= | |
| ENST00000696769.1:n.2553A= | ||
| ENST00000696771.1:c.147A= | ENSP00000512860.1:p.Lys49= | |
| ENST00000696772.1:n.2467A= | ||
| ENST00000696773.1:n.2206A= | ||
| ENST00000696774.1:n.5974A= | ||
| ENST00000696776.1:c.957A= | ENSP00000512861.1:p.Lys319= | |
| ENST00000696777.1:n.2272A= | ||
| ENST00000696778.1:n.1300A= | ||
| ENST00000696779.1:c.471A= | ENSP00000512862.1:p.Lys157= | |
| ENST00000696780.1:c.894A= | ENSP00000512863.1:p.Lys298= | |
| ENST00000696781.1:c.609A= | ENSP00000512864.1:p.Lys203= | |
| ENST00000696782.1:c.*266A= | ENSP00000512865.1:n.*266A= | |
| ENST00000696783.1:n.2732A= | ||
| ENST00000696992.1:n.1981A= | ||
| ENST00000696995.1:n.4393A= | ||
| ENST00000696996.1:n.2306A= | ||
| ENST00000696997.1:c.*494A= | ENSP00000513028.1:n.*494A= | |
| ENST00000696998.1:n.2118A= | ||
| ENST00000696999.1:c.147A= | ENSP00000513029.1:p.Lys49= | |
| ENST00000697036.1:c.*280A= | ENSP00000513060.1:n.*280A= | |
| ENST00000697037.1:n.899A= | ||
| ENST00000697093.1:n.3100A= | ||
| ENST00000697094.1:n.3447A= | ||
| ENST00000697095.1:c.*2065A= | ENSP00000513104.1:n.*2065A= | |
| ENST00000697096.1:n.1997A= | ||
| ENST00000697097.1:c.147A= | ENSP00000513105.1:p.Lys49= | |
| ENST00000562983.2:n.1050A= | ||
| ENST00000690268.1:c.945A= | ENSP00000509810.1:p.Lys315= | |
| ENST00000355740.7:c.*190A= | ENSP00000347979.3:n.*190A= | |
| ENST00000612663.5:c.*266A= | ENSP00000477997.3:n.*266A= | |
| ENST00000640140.1:n.1036A= | ||
| ENST00000640250.1:n.363A= | ||
| ENST00000640681.1:n.985A= | ||
| ENST00000652046.1:c.864A= MANE Select | ENSP00000498466.1:p.Lys288= | |
| ENST00000352159.8:c.*181A= | ENSP00000345601.4:n.*181A= | |
| ENST00000355279.2:c.839A= | ENSP00000347426.2:n.839A= | |
| ENST00000355740.6:c.864A= | ENSP00000347979.2:p.Lys288= | |
| ENST00000357339.6:c.801A= | ENSP00000349896.2:p.Lys267= | |
| ENST00000479522.5:c.*293A= | ENSP00000424113.1:n.*293A= | |
| ENST00000484444.5:c.*305A= | ENSP00000420975.1:n.*305A= | |
| ENST00000488877.5:c.*305A= | ENSP00000425159.1:n.*305A= | |
| ENST00000492756.5:c.692A= | ENSP00000422453.1:n.692A= | |
| ENST00000494410.5:c.*222A= | ENSP00000423755.1:n.*222A= | |
| ENST00000612663.4:c.*211A= | ENSP00000477997.2:n.*211A= | |
| NM_000043.4:c.864A= , LRG_134t1:c.864A= | NP_000034.1:p.Lys288= | |
| NM_152871.2:c.801A= | NP_690610.1:p.Lys267= | |
| NM_152872.2:c.*176A= | NP_690611.1:n.*176A= | |
| NR_028033.2:n.1038A= | ||
| NR_028034.2:n.900A= | ||
| NR_028035.2:n.963A= | ||
| NR_028036.2:n.1101A= | ||
| XM_006717819.2:c.945A= | XP_006717882.1:p.Lys315= | |
| XM_011539764.1:c.1026A= | XP_011538066.1:p.Lys342= | |
| XM_011539765.1:c.963A= | XP_011538067.1:p.Lys321= | |
| XM_011539766.1:c.945A= | XP_011538068.1:p.Lys315= | |
| XM_011539767.1:c.909A= | XP_011538069.1:p.Lys303= | |
| XR_945732.1:n.932A= | ||
| XR_945733.1:n.869A= | ||
| NM_000043.5:c.864A= | NP_000034.1:p.Lys288= | |
| NM_001320619.1:c.*187A= | NP_001307548.1:n.*187A= | |
| NM_152871.3:c.801A= | NP_690610.1:p.Lys267= | |
| NM_152872.3:c.*176A= | NP_690611.1:n.*176A= | |
| NR_028033.3:n.1010A= | ||
| NR_028034.3:n.872A= | ||
| NR_028035.3:n.935A= | ||
| NR_028036.3:n.1073A= | ||
| NR_135313.1:n.990A= | ||
| NR_135314.1:n.1173A= | ||
| NR_135315.1:n.926A= | ||
| XM_006717819.3:c.945A= | XP_006717882.1:p.Lys315= | |
| XM_011539764.2:c.1026A= | XP_011538066.1:p.Lys342= | |
| XM_011539765.2:c.963A= | XP_011538067.1:p.Lys321= | |
| XM_011539766.2:c.945A= | XP_011538068.1:p.Lys315= | |
| XM_011539767.3:c.909A= | XP_011538069.1:p.Lys303= | |
| XR_945732.3:n.932A= | ||
| XR_945733.2:n.869A= | ||
| NM_000043.6:c.864A= MANE Select | NP_000034.1:p.Lys288= | |
| NM_001320619.2:c.*187A= | NP_001307548.1:n.*187A= | |
| NM_152871.4:c.801A= | NP_690610.1:p.Lys267= | |
| NM_152872.4:c.*176A= | NP_690611.1:n.*176A= | |
| NR_028033.4:n.771A= | ||
| NR_028034.4:n.633A= | ||
| NR_028035.4:n.696A= | ||
| NR_028036.4:n.834A= | ||
| NR_135313.2:n.751A= | ||
| NR_135314.2:n.1030A= | ||
| NR_135315.2:n.783A= |