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.89014173A= , CM000672.2:g.89014173A= | GRCh38 |
| NC_000010.10:g.90773930A= , CM000672.1:g.90773930A= | GRCh37 |
| NC_000010.9:g.90763910A= | NCBI36 |
| NG_009089.2:g.28643A= , LRG_134:g.28643A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1040A= | ||
| ENST00000355740.8:c.*54A= | ENSP00000347979.3:n.*54A= | |
| ENST00000357339.7:c.668A= | ENSP00000349896.2:p.Gln223= | |
| ENST00000371857.8:n.2276A= | ||
| ENST00000460510.6:c.14A= | ENSP00000512812.1:p.Gln5= | |
| ENST00000466081.6:n.2380A= | ||
| ENST00000477270.6:c.776A= | ENSP00000512813.1:p.Gln259= | |
| ENST00000479522.6:c.*160A= | ENSP00000424113.1:n.*160A= | |
| ENST00000484444.6:c.*172A= | ENSP00000420975.1:n.*172A= | |
| ENST00000488877.6:c.622A= | ENSP00000425159.1:n.622A= | |
| ENST00000492756.7:c.*160A= | ENSP00000422453.1:n.*160A= | |
| ENST00000494799.6:c.14A= | ENSP00000512834.1:p.Gln5= | |
| ENST00000562983.3:c.14A= | ENSP00000512845.1:p.Gln5= | |
| ENST00000612663.6:c.*133A= | ENSP00000477997.3:n.*133A= | |
| ENST00000640140.2:n.876A= | ||
| ENST00000640250.2:n.230A= | ||
| ENST00000640681.2:n.835A= | ||
| ENST00000696723.1:n.4364A= | ||
| ENST00000696741.1:n.2369A= | ||
| ENST00000696742.1:n.2096A= | ||
| ENST00000696743.1:n.3499A= | ||
| ENST00000696744.1:n.770A= | ||
| ENST00000696767.1:n.1065A= | ||
| ENST00000696768.1:c.*54A= | ENSP00000512859.1:n.*54A= | |
| ENST00000696769.1:n.2420A= | ||
| ENST00000696771.1:c.14A= | ENSP00000512860.1:p.Gln5= | |
| ENST00000696772.1:n.2334A= | ||
| ENST00000696773.1:n.2073A= | ||
| ENST00000696774.1:n.5841A= | ||
| ENST00000696776.1:c.824A= | ENSP00000512861.1:p.Gln275= | |
| ENST00000696777.1:n.2139A= | ||
| ENST00000696778.1:n.1167A= | ||
| ENST00000696779.1:c.338A= | ENSP00000512862.1:p.Gln113= | |
| ENST00000696780.1:c.761A= | ENSP00000512863.1:p.Gln254= | |
| ENST00000696781.1:c.476A= | ENSP00000512864.1:p.Gln159= | |
| ENST00000696782.1:c.*133A= | ENSP00000512865.1:n.*133A= | |
| ENST00000696783.1:n.2599A= | ||
| ENST00000696992.1:n.1848A= | ||
| ENST00000696995.1:n.4260A= | ||
| ENST00000696996.1:n.2173A= | ||
| ENST00000696997.1:c.*361A= | ENSP00000513028.1:n.*361A= | |
| ENST00000696998.1:n.1985A= | ||
| ENST00000696999.1:c.14A= | ENSP00000513029.1:p.Gln5= | |
| ENST00000697035.1:c.*64A= | ENSP00000513059.1:n.*64A= | |
| ENST00000697036.1:c.*147A= | ENSP00000513060.1:n.*147A= | |
| ENST00000697037.1:n.766A= | ||
| ENST00000697093.1:n.2967A= | ||
| ENST00000697094.1:n.3314A= | ||
| ENST00000697095.1:c.*1932A= | ENSP00000513104.1:n.*1932A= | |
| ENST00000697096.1:n.1864A= | ||
| ENST00000697097.1:c.14A= | ENSP00000513105.1:p.Gln5= | |
| ENST00000562983.2:n.917A= | ||
| ENST00000690268.1:c.812A= | ENSP00000509810.1:p.Gln271= | |
| ENST00000355740.7:c.*57A= | ENSP00000347979.3:n.*57A= | |
| ENST00000612663.5:c.*133A= | ENSP00000477997.3:n.*133A= | |
| ENST00000640140.1:n.903A= | ||
| ENST00000640250.1:n.230A= | ||
| ENST00000640681.1:n.852A= | ||
| ENST00000652046.1:c.731A= MANE Select | ENSP00000498466.1:p.Gln244= | |
| ENST00000313771.9:n.1040A= | ||
| ENST00000352159.8:c.*48A= | ENSP00000345601.4:n.*48A= | |
| ENST00000355279.2:c.706A= | ENSP00000347426.2:n.706A= | |
| ENST00000355740.6:c.731A= | ENSP00000347979.2:p.Gln244= | |
| ENST00000357339.6:c.668A= | ENSP00000349896.2:p.Gln223= | |
| ENST00000479522.5:c.*160A= | ENSP00000424113.1:n.*160A= | |
| ENST00000484444.5:c.*172A= | ENSP00000420975.1:n.*172A= | |
| ENST00000488877.5:c.*172A= | ENSP00000425159.1:n.*172A= | |
| ENST00000492756.5:c.559A= | ENSP00000422453.1:n.559A= | |
| ENST00000494410.5:c.*89A= | ENSP00000423755.1:n.*89A= | |
| ENST00000494799.5:n.638A= | ||
| ENST00000612663.4:c.*78A= | ENSP00000477997.2:n.*78A= | |
| ENST00000615406.4:c.731A= | ENSP00000484575.1:p.Gln244= | |
| ENST00000626542.2:c.729A= | ENSP00000485876.1:p.Ser243= | |
| NM_000043.4:c.731A= , LRG_134t1:c.731A= | NP_000034.1:p.Gln244= | |
| NM_152871.2:c.668A= | NP_690610.1:p.Gln223= | |
| NM_152872.2:c.*43A= | NP_690611.1:n.*43A= | |
| NR_028033.2:n.905A= | ||
| NR_028034.2:n.767A= | ||
| NR_028035.2:n.830A= | ||
| NR_028036.2:n.968A= | ||
| XM_006717819.2:c.812A= | XP_006717882.1:p.Gln271= | |
| XM_011539764.1:c.893A= | XP_011538066.1:p.Gln298= | |
| XM_011539765.1:c.830A= | XP_011538067.1:p.Gln277= | |
| XM_011539766.1:c.812A= | XP_011538068.1:p.Gln271= | |
| XM_011539767.1:c.776A= | XP_011538069.1:p.Gln259= | |
| XR_945732.1:n.799A= | ||
| XR_945733.1:n.736A= | ||
| NM_000043.5:c.731A= | NP_000034.1:p.Gln244= | |
| NM_001320619.1:c.*54A= | NP_001307548.1:n.*54A= | |
| NM_152871.3:c.668A= | NP_690610.1:p.Gln223= | |
| NM_152872.3:c.*43A= | NP_690611.1:n.*43A= | |
| NR_028033.3:n.877A= | ||
| NR_028034.3:n.739A= | ||
| NR_028035.3:n.802A= | ||
| NR_028036.3:n.940A= | ||
| NR_135313.1:n.857A= | ||
| NR_135314.1:n.1040A= | ||
| NR_135315.1:n.793A= | ||
| XM_006717819.3:c.812A= | XP_006717882.1:p.Gln271= | |
| XM_011539764.2:c.893A= | XP_011538066.1:p.Gln298= | |
| XM_011539765.2:c.830A= | XP_011538067.1:p.Gln277= | |
| XM_011539766.2:c.812A= | XP_011538068.1:p.Gln271= | |
| XM_011539767.3:c.776A= | XP_011538069.1:p.Gln259= | |
| XR_945732.3:n.799A= | ||
| XR_945733.2:n.736A= | ||
| NM_000043.6:c.731A= MANE Select | NP_000034.1:p.Gln244= | |
| NM_001320619.2:c.*54A= | NP_001307548.1:n.*54A= | |
| NM_152871.4:c.668A= | NP_690610.1:p.Gln223= | |
| NM_152872.4:c.*43A= | NP_690611.1:n.*43A= | |
| NR_028033.4:n.638A= | ||
| NR_028034.4:n.500A= | ||
| NR_028035.4:n.563A= | ||
| NR_028036.4:n.701A= | ||
| NR_135313.2:n.618A= | ||
| NR_135314.2:n.897A= | ||
| NR_135315.2:n.650A= |