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.89014418A= , CM000672.2:g.89014418A= | GRCh38 |
| NC_000010.10:g.90774175A= , CM000672.1:g.90774175A= | GRCh37 |
| NC_000010.9:g.90764155A= | NCBI36 |
| NG_009089.2:g.28888A= , LRG_134:g.28888A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1285A= | ||
| ENST00000355740.8:c.*299A= | ENSP00000347979.3:n.*299A= | |
| ENST00000357339.7:c.913A= | ENSP00000349896.2:p.Asn305= | |
| ENST00000371857.8:n.2521A= | ||
| ENST00000460510.6:c.259A= | ENSP00000512812.1:p.Asn87= | |
| ENST00000466081.6:n.2625A= | ||
| ENST00000477270.6:c.1021A= | ENSP00000512813.1:p.Asn341= | |
| ENST00000479522.6:c.*405A= | ENSP00000424113.1:n.*405A= | |
| ENST00000484444.6:c.*417A= | ENSP00000420975.1:n.*417A= | |
| ENST00000488877.6:c.867A= | ENSP00000425159.1:n.867A= | |
| ENST00000492756.7:c.*405A= | ENSP00000422453.1:n.*405A= | |
| ENST00000494799.6:c.259A= | ENSP00000512834.1:p.Asn87= | |
| ENST00000562983.3:c.259A= | ENSP00000512845.1:p.Asn87= | |
| ENST00000612663.6:c.*378A= | ENSP00000477997.3:n.*378A= | |
| ENST00000640140.2:n.1121A= | ||
| ENST00000640250.2:n.475A= | ||
| ENST00000640681.2:n.1080A= | ||
| ENST00000696723.1:n.4609A= | ||
| ENST00000696741.1:n.2614A= | ||
| ENST00000696742.1:n.2341A= | ||
| ENST00000696743.1:n.3744A= | ||
| ENST00000696744.1:n.1015A= | ||
| ENST00000696767.1:n.1310A= | ||
| ENST00000696768.1:c.*299A= | ENSP00000512859.1:n.*299A= | |
| ENST00000696769.1:n.2665A= | ||
| ENST00000696771.1:c.259A= | ENSP00000512860.1:p.Asn87= | |
| ENST00000696772.1:n.2579A= | ||
| ENST00000696773.1:n.2318A= | ||
| ENST00000696774.1:n.6086A= | ||
| ENST00000696776.1:c.1069A= | ENSP00000512861.1:p.Asn357= | |
| ENST00000696777.1:n.2384A= | ||
| ENST00000696778.1:n.1412A= | ||
| ENST00000696779.1:c.583A= | ENSP00000512862.1:p.Asn195= | |
| ENST00000696780.1:c.1006A= | ENSP00000512863.1:p.Asn336= | |
| ENST00000696781.1:c.721A= | ENSP00000512864.1:p.Asn241= | |
| ENST00000696782.1:c.*378A= | ENSP00000512865.1:n.*378A= | |
| ENST00000696783.1:n.2844A= | ||
| ENST00000696992.1:n.2093A= | ||
| ENST00000696995.1:n.4505A= | ||
| ENST00000696996.1:n.2418A= | ||
| ENST00000696997.1:c.*606A= | ENSP00000513028.1:n.*606A= | |
| ENST00000696998.1:n.2230A= | ||
| ENST00000696999.1:c.259A= | ENSP00000513029.1:p.Asn87= | |
| ENST00000697036.1:c.*392A= | ENSP00000513060.1:n.*392A= | |
| ENST00000697037.1:n.1011A= | ||
| ENST00000697093.1:n.3212A= | ||
| ENST00000697094.1:n.3559A= | ||
| ENST00000697095.1:c.*2177A= | ENSP00000513104.1:n.*2177A= | |
| ENST00000697096.1:n.2109A= | ||
| ENST00000697097.1:c.259A= | ENSP00000513105.1:p.Asn87= | |
| ENST00000562983.2:n.1162A= | ||
| ENST00000690268.1:c.1057A= | ENSP00000509810.1:p.Asn353= | |
| ENST00000355740.7:c.*302A= | ENSP00000347979.3:n.*302A= | |
| ENST00000612663.5:c.*378A= | ENSP00000477997.3:n.*378A= | |
| ENST00000640140.1:n.1148A= | ||
| ENST00000640250.1:n.475A= | ||
| ENST00000640681.1:n.1097A= | ||
| ENST00000652046.1:c.976A= MANE Select | ENSP00000498466.1:p.Asn326= | |
| ENST00000352159.8:c.*293A= | ENSP00000345601.4:n.*293A= | |
| ENST00000355279.2:c.951A= | ENSP00000347426.2:n.951A= | |
| ENST00000355740.6:c.976A= | ENSP00000347979.2:p.Asn326= | |
| ENST00000357339.6:c.913A= | ENSP00000349896.2:p.Asn305= | |
| ENST00000479522.5:c.*405A= | ENSP00000424113.1:n.*405A= | |
| ENST00000484444.5:c.*417A= | ENSP00000420975.1:n.*417A= | |
| ENST00000488877.5:c.*417A= | ENSP00000425159.1:n.*417A= | |
| ENST00000492756.5:c.804A= | ENSP00000422453.1:n.804A= | |
| ENST00000494410.5:c.*334A= | ENSP00000423755.1:n.*334A= | |
| ENST00000612663.4:c.*323A= | ENSP00000477997.2:n.*323A= | |
| NM_000043.4:c.976A= , LRG_134t1:c.976A= | NP_000034.1:p.Asn326= | |
| NM_152871.2:c.913A= | NP_690610.1:p.Asn305= | |
| NM_152872.2:c.*288A= | NP_690611.1:n.*288A= | |
| NR_028033.2:n.1150A= | ||
| NR_028034.2:n.1012A= | ||
| NR_028035.2:n.1075A= | ||
| NR_028036.2:n.1213A= | ||
| XM_006717819.2:c.1057A= | XP_006717882.1:p.Asn353= | |
| XM_011539764.1:c.1138A= | XP_011538066.1:p.Asn380= | |
| XM_011539765.1:c.1075A= | XP_011538067.1:p.Asn359= | |
| XM_011539766.1:c.1057A= | XP_011538068.1:p.Asn353= | |
| XM_011539767.1:c.1021A= | XP_011538069.1:p.Asn341= | |
| XR_945733.1:n.981A= | ||
| NM_000043.5:c.976A= | NP_000034.1:p.Asn326= | |
| NM_001320619.1:c.*299A= | NP_001307548.1:n.*299A= | |
| NM_152871.3:c.913A= | NP_690610.1:p.Asn305= | |
| NM_152872.3:c.*288A= | NP_690611.1:n.*288A= | |
| NR_028033.3:n.1122A= | ||
| NR_028034.3:n.984A= | ||
| NR_028035.3:n.1047A= | ||
| NR_028036.3:n.1185A= | ||
| NR_135313.1:n.1102A= | ||
| NR_135314.1:n.1285A= | ||
| NR_135315.1:n.1038A= | ||
| XM_006717819.3:c.1057A= | XP_006717882.1:p.Asn353= | |
| XM_011539764.2:c.1138A= | XP_011538066.1:p.Asn380= | |
| XM_011539765.2:c.1075A= | XP_011538067.1:p.Asn359= | |
| XM_011539766.2:c.1057A= | XP_011538068.1:p.Asn353= | |
| XM_011539767.3:c.1021A= | XP_011538069.1:p.Asn341= | |
| XR_945732.3:n.1044A= | ||
| XR_945733.2:n.981A= | ||
| NM_000043.6:c.976A= MANE Select | NP_000034.1:p.Asn326= | |
| NM_001320619.2:c.*299A= | NP_001307548.1:n.*299A= | |
| NM_152871.4:c.913A= | NP_690610.1:p.Asn305= | |
| NM_152872.4:c.*288A= | NP_690611.1:n.*288A= | |
| NR_028033.4:n.883A= | ||
| NR_028034.4:n.745A= | ||
| NR_028035.4:n.808A= | ||
| NR_028036.4:n.946A= | ||
| NR_135313.2:n.863A= | ||
| NR_135314.2:n.1142A= | ||
| NR_135315.2:n.895A= |