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.89014296A= , CM000672.2:g.89014296A= | GRCh38 |
| NC_000010.10:g.90774053A= , CM000672.1:g.90774053A= | GRCh37 |
| NC_000010.9:g.90764033A= | NCBI36 |
| NG_009089.2:g.28766A= , LRG_134:g.28766A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1163A= | ||
| ENST00000355740.8:c.*177A= | ENSP00000347979.3:n.*177A= | |
| ENST00000357339.7:c.791A= | ENSP00000349896.2:p.His264= | |
| ENST00000371857.8:n.2399A= | ||
| ENST00000460510.6:c.137A= | ENSP00000512812.1:p.His46= | |
| ENST00000466081.6:n.2503A= | ||
| ENST00000477270.6:c.899A= | ENSP00000512813.1:p.His300= | |
| ENST00000479522.6:c.*283A= | ENSP00000424113.1:n.*283A= | |
| ENST00000484444.6:c.*295A= | ENSP00000420975.1:n.*295A= | |
| ENST00000488877.6:c.745A= | ENSP00000425159.1:n.745A= | |
| ENST00000492756.7:c.*283A= | ENSP00000422453.1:n.*283A= | |
| ENST00000494799.6:c.137A= | ENSP00000512834.1:p.His46= | |
| ENST00000562983.3:c.137A= | ENSP00000512845.1:p.His46= | |
| ENST00000612663.6:c.*256A= | ENSP00000477997.3:n.*256A= | |
| ENST00000640140.2:n.999A= | ||
| ENST00000640250.2:n.353A= | ||
| ENST00000640681.2:n.958A= | ||
| ENST00000696723.1:n.4487A= | ||
| ENST00000696741.1:n.2492A= | ||
| ENST00000696742.1:n.2219A= | ||
| ENST00000696743.1:n.3622A= | ||
| ENST00000696744.1:n.893A= | ||
| ENST00000696767.1:n.1188A= | ||
| ENST00000696768.1:c.*177A= | ENSP00000512859.1:n.*177A= | |
| ENST00000696769.1:n.2543A= | ||
| ENST00000696771.1:c.137A= | ENSP00000512860.1:p.His46= | |
| ENST00000696772.1:n.2457A= | ||
| ENST00000696773.1:n.2196A= | ||
| ENST00000696774.1:n.5964A= | ||
| ENST00000696776.1:c.947A= | ENSP00000512861.1:p.His316= | |
| ENST00000696777.1:n.2262A= | ||
| ENST00000696778.1:n.1290A= | ||
| ENST00000696779.1:c.461A= | ENSP00000512862.1:p.His154= | |
| ENST00000696780.1:c.884A= | ENSP00000512863.1:p.His295= | |
| ENST00000696781.1:c.599A= | ENSP00000512864.1:p.His200= | |
| ENST00000696782.1:c.*256A= | ENSP00000512865.1:n.*256A= | |
| ENST00000696783.1:n.2722A= | ||
| ENST00000696992.1:n.1971A= | ||
| ENST00000696995.1:n.4383A= | ||
| ENST00000696996.1:n.2296A= | ||
| ENST00000696997.1:c.*484A= | ENSP00000513028.1:n.*484A= | |
| ENST00000696998.1:n.2108A= | ||
| ENST00000696999.1:c.137A= | ENSP00000513029.1:p.His46= | |
| ENST00000697035.1:c.*187A= | ENSP00000513059.1:n.*187A= | |
| ENST00000697036.1:c.*270A= | ENSP00000513060.1:n.*270A= | |
| ENST00000697037.1:n.889A= | ||
| ENST00000697093.1:n.3090A= | ||
| ENST00000697094.1:n.3437A= | ||
| ENST00000697095.1:c.*2055A= | ENSP00000513104.1:n.*2055A= | |
| ENST00000697096.1:n.1987A= | ||
| ENST00000697097.1:c.137A= | ENSP00000513105.1:p.His46= | |
| ENST00000562983.2:n.1040A= | ||
| ENST00000690268.1:c.935A= | ENSP00000509810.1:p.His312= | |
| ENST00000355740.7:c.*180A= | ENSP00000347979.3:n.*180A= | |
| ENST00000612663.5:c.*256A= | ENSP00000477997.3:n.*256A= | |
| ENST00000640140.1:n.1026A= | ||
| ENST00000640250.1:n.353A= | ||
| ENST00000640681.1:n.975A= | ||
| ENST00000652046.1:c.854A= MANE Select | ENSP00000498466.1:p.His285= | |
| ENST00000352159.8:c.*171A= | ENSP00000345601.4:n.*171A= | |
| ENST00000355279.2:c.829A= | ENSP00000347426.2:n.829A= | |
| ENST00000355740.6:c.854A= | ENSP00000347979.2:p.His285= | |
| ENST00000357339.6:c.791A= | ENSP00000349896.2:p.His264= | |
| ENST00000479522.5:c.*283A= | ENSP00000424113.1:n.*283A= | |
| ENST00000484444.5:c.*295A= | ENSP00000420975.1:n.*295A= | |
| ENST00000488877.5:c.*295A= | ENSP00000425159.1:n.*295A= | |
| ENST00000492756.5:c.682A= | ENSP00000422453.1:n.682A= | |
| ENST00000494410.5:c.*212A= | ENSP00000423755.1:n.*212A= | |
| ENST00000612663.4:c.*201A= | ENSP00000477997.2:n.*201A= | |
| NM_000043.4:c.854A= , LRG_134t1:c.854A= | NP_000034.1:p.His285= | |
| NM_152871.2:c.791A= | NP_690610.1:p.His264= | |
| NM_152872.2:c.*166A= | NP_690611.1:n.*166A= | |
| NR_028033.2:n.1028A= | ||
| NR_028034.2:n.890A= | ||
| NR_028035.2:n.953A= | ||
| NR_028036.2:n.1091A= | ||
| XM_006717819.2:c.935A= | XP_006717882.1:p.His312= | |
| XM_011539764.1:c.1016A= | XP_011538066.1:p.His339= | |
| XM_011539765.1:c.953A= | XP_011538067.1:p.His318= | |
| XM_011539766.1:c.935A= | XP_011538068.1:p.His312= | |
| XM_011539767.1:c.899A= | XP_011538069.1:p.His300= | |
| XR_945732.1:n.922A= | ||
| XR_945733.1:n.859A= | ||
| NM_000043.5:c.854A= | NP_000034.1:p.His285= | |
| NM_001320619.1:c.*177A= | NP_001307548.1:n.*177A= | |
| NM_152871.3:c.791A= | NP_690610.1:p.His264= | |
| NM_152872.3:c.*166A= | NP_690611.1:n.*166A= | |
| NR_028033.3:n.1000A= | ||
| NR_028034.3:n.862A= | ||
| NR_028035.3:n.925A= | ||
| NR_028036.3:n.1063A= | ||
| NR_135313.1:n.980A= | ||
| NR_135314.1:n.1163A= | ||
| NR_135315.1:n.916A= | ||
| XM_006717819.3:c.935A= | XP_006717882.1:p.His312= | |
| XM_011539764.2:c.1016A= | XP_011538066.1:p.His339= | |
| XM_011539765.2:c.953A= | XP_011538067.1:p.His318= | |
| XM_011539766.2:c.935A= | XP_011538068.1:p.His312= | |
| XM_011539767.3:c.899A= | XP_011538069.1:p.His300= | |
| XR_945732.3:n.922A= | ||
| XR_945733.2:n.859A= | ||
| NM_000043.6:c.854A= MANE Select | NP_000034.1:p.His285= | |
| NM_001320619.2:c.*177A= | NP_001307548.1:n.*177A= | |
| NM_152871.4:c.791A= | NP_690610.1:p.His264= | |
| NM_152872.4:c.*166A= | NP_690611.1:n.*166A= | |
| NR_028033.4:n.761A= | ||
| NR_028034.4:n.623A= | ||
| NR_028035.4:n.686A= | ||
| NR_028036.4:n.824A= | ||
| NR_135313.2:n.741A= | ||
| NR_135314.2:n.1020A= | ||
| NR_135315.2:n.773A= |