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.89014206A= , CM000672.2:g.89014206A= | GRCh38 |
| NC_000010.10:g.90773963A= , CM000672.1:g.90773963A= | GRCh37 |
| NC_000010.9:g.90763943A= | NCBI36 |
| NG_009089.2:g.28676A= , LRG_134:g.28676A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1073A= | ||
| ENST00000355740.8:c.*87A= | ENSP00000347979.3:n.*87A= | |
| ENST00000357339.7:c.701A= | ENSP00000349896.2:p.Asn234= | |
| ENST00000371857.8:n.2309A= | ||
| ENST00000460510.6:c.47A= | ENSP00000512812.1:p.Asn16= | |
| ENST00000466081.6:n.2413A= | ||
| ENST00000477270.6:c.809A= | ENSP00000512813.1:p.Asn270= | |
| ENST00000479522.6:c.*193A= | ENSP00000424113.1:n.*193A= | |
| ENST00000484444.6:c.*205A= | ENSP00000420975.1:n.*205A= | |
| ENST00000488877.6:c.655A= | ENSP00000425159.1:n.655A= | |
| ENST00000492756.7:c.*193A= | ENSP00000422453.1:n.*193A= | |
| ENST00000494799.6:c.47A= | ENSP00000512834.1:p.Asn16= | |
| ENST00000562983.3:c.47A= | ENSP00000512845.1:p.Asn16= | |
| ENST00000612663.6:c.*166A= | ENSP00000477997.3:n.*166A= | |
| ENST00000640140.2:n.909A= | ||
| ENST00000640250.2:n.263A= | ||
| ENST00000640681.2:n.868A= | ||
| ENST00000696723.1:n.4397A= | ||
| ENST00000696741.1:n.2402A= | ||
| ENST00000696742.1:n.2129A= | ||
| ENST00000696743.1:n.3532A= | ||
| ENST00000696744.1:n.803A= | ||
| ENST00000696767.1:n.1098A= | ||
| ENST00000696768.1:c.*87A= | ENSP00000512859.1:n.*87A= | |
| ENST00000696769.1:n.2453A= | ||
| ENST00000696771.1:c.47A= | ENSP00000512860.1:p.Asn16= | |
| ENST00000696772.1:n.2367A= | ||
| ENST00000696773.1:n.2106A= | ||
| ENST00000696774.1:n.5874A= | ||
| ENST00000696776.1:c.857A= | ENSP00000512861.1:p.Asn286= | |
| ENST00000696777.1:n.2172A= | ||
| ENST00000696778.1:n.1200A= | ||
| ENST00000696779.1:c.371A= | ENSP00000512862.1:p.Asn124= | |
| ENST00000696780.1:c.794A= | ENSP00000512863.1:p.Asn265= | |
| ENST00000696781.1:c.509A= | ENSP00000512864.1:p.Asn170= | |
| ENST00000696782.1:c.*166A= | ENSP00000512865.1:n.*166A= | |
| ENST00000696783.1:n.2632A= | ||
| ENST00000696992.1:n.1881A= | ||
| ENST00000696995.1:n.4293A= | ||
| ENST00000696996.1:n.2206A= | ||
| ENST00000696997.1:c.*394A= | ENSP00000513028.1:n.*394A= | |
| ENST00000696998.1:n.2018A= | ||
| ENST00000696999.1:c.47A= | ENSP00000513029.1:p.Asn16= | |
| ENST00000697035.1:c.*97A= | ENSP00000513059.1:n.*97A= | |
| ENST00000697036.1:c.*180A= | ENSP00000513060.1:n.*180A= | |
| ENST00000697037.1:n.799A= | ||
| ENST00000697093.1:n.3000A= | ||
| ENST00000697094.1:n.3347A= | ||
| ENST00000697095.1:c.*1965A= | ENSP00000513104.1:n.*1965A= | |
| ENST00000697096.1:n.1897A= | ||
| ENST00000697097.1:c.47A= | ENSP00000513105.1:p.Asn16= | |
| ENST00000562983.2:n.950A= | ||
| ENST00000690268.1:c.845A= | ENSP00000509810.1:p.Asn282= | |
| ENST00000355740.7:c.*90A= | ENSP00000347979.3:n.*90A= | |
| ENST00000612663.5:c.*166A= | ENSP00000477997.3:n.*166A= | |
| ENST00000640140.1:n.936A= | ||
| ENST00000640250.1:n.263A= | ||
| ENST00000640681.1:n.885A= | ||
| ENST00000652046.1:c.764A= MANE Select | ENSP00000498466.1:p.Asn255= | |
| ENST00000352159.8:c.*81A= | ENSP00000345601.4:n.*81A= | |
| ENST00000355279.2:c.739A= | ENSP00000347426.2:n.739A= | |
| ENST00000355740.6:c.764A= | ENSP00000347979.2:p.Asn255= | |
| ENST00000357339.6:c.701A= | ENSP00000349896.2:p.Asn234= | |
| ENST00000479522.5:c.*193A= | ENSP00000424113.1:n.*193A= | |
| ENST00000484444.5:c.*205A= | ENSP00000420975.1:n.*205A= | |
| ENST00000488877.5:c.*205A= | ENSP00000425159.1:n.*205A= | |
| ENST00000492756.5:c.592A= | ENSP00000422453.1:n.592A= | |
| ENST00000494410.5:c.*122A= | ENSP00000423755.1:n.*122A= | |
| ENST00000494799.5:n.671A= | ||
| ENST00000612663.4:c.*111A= | ENSP00000477997.2:n.*111A= | |
| ENST00000615406.4:c.762A= | ENSP00000484575.1:p.Gln254= | |
| NM_000043.4:c.764A= , LRG_134t1:c.764A= | NP_000034.1:p.Asn255= | |
| NM_152871.2:c.701A= | NP_690610.1:p.Asn234= | |
| NM_152872.2:c.*76A= | NP_690611.1:n.*76A= | |
| NR_028033.2:n.938A= | ||
| NR_028034.2:n.800A= | ||
| NR_028035.2:n.863A= | ||
| NR_028036.2:n.1001A= | ||
| XM_006717819.2:c.845A= | XP_006717882.1:p.Asn282= | |
| XM_011539764.1:c.926A= | XP_011538066.1:p.Asn309= | |
| XM_011539765.1:c.863A= | XP_011538067.1:p.Asn288= | |
| XM_011539766.1:c.845A= | XP_011538068.1:p.Asn282= | |
| XM_011539767.1:c.809A= | XP_011538069.1:p.Asn270= | |
| XR_945732.1:n.832A= | ||
| XR_945733.1:n.769A= | ||
| NM_000043.5:c.764A= | NP_000034.1:p.Asn255= | |
| NM_001320619.1:c.*87A= | NP_001307548.1:n.*87A= | |
| NM_152871.3:c.701A= | NP_690610.1:p.Asn234= | |
| NM_152872.3:c.*76A= | NP_690611.1:n.*76A= | |
| NR_028033.3:n.910A= | ||
| NR_028034.3:n.772A= | ||
| NR_028035.3:n.835A= | ||
| NR_028036.3:n.973A= | ||
| NR_135313.1:n.890A= | ||
| NR_135314.1:n.1073A= | ||
| NR_135315.1:n.826A= | ||
| XM_006717819.3:c.845A= | XP_006717882.1:p.Asn282= | |
| XM_011539764.2:c.926A= | XP_011538066.1:p.Asn309= | |
| XM_011539765.2:c.863A= | XP_011538067.1:p.Asn288= | |
| XM_011539766.2:c.845A= | XP_011538068.1:p.Asn282= | |
| XM_011539767.3:c.809A= | XP_011538069.1:p.Asn270= | |
| XR_945732.3:n.832A= | ||
| XR_945733.2:n.769A= | ||
| NM_000043.6:c.764A= MANE Select | NP_000034.1:p.Asn255= | |
| NM_001320619.2:c.*87A= | NP_001307548.1:n.*87A= | |
| NM_152871.4:c.701A= | NP_690610.1:p.Asn234= | |
| NM_152872.4:c.*76A= | NP_690611.1:n.*76A= | |
| NR_028033.4:n.671A= | ||
| NR_028034.4:n.533A= | ||
| NR_028035.4:n.596A= | ||
| NR_028036.4:n.734A= | ||
| NR_135313.2:n.651A= | ||
| NR_135314.2:n.930A= | ||
| NR_135315.2:n.683A= |