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.89014352T= , CM000672.2:g.89014352T= | GRCh38 |
| NC_000010.10:g.90774109T= , CM000672.1:g.90774109T= | GRCh37 |
| NC_000010.9:g.90764089T= | NCBI36 |
| NG_009089.2:g.28822T= , LRG_134:g.28822T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1219T= | ||
| ENST00000355740.8:c.*233T= | ENSP00000347979.3:n.*233T= | |
| ENST00000357339.7:c.847T= | ENSP00000349896.2:p.Cys283= | |
| ENST00000371857.8:n.2455T= | ||
| ENST00000460510.6:c.193T= | ENSP00000512812.1:p.Cys65= | |
| ENST00000466081.6:n.2559T= | ||
| ENST00000477270.6:c.955T= | ENSP00000512813.1:p.Cys319= | |
| ENST00000479522.6:c.*339T= | ENSP00000424113.1:n.*339T= | |
| ENST00000484444.6:c.*351T= | ENSP00000420975.1:n.*351T= | |
| ENST00000488877.6:c.801T= | ENSP00000425159.1:n.801T= | |
| ENST00000492756.7:c.*339T= | ENSP00000422453.1:n.*339T= | |
| ENST00000494799.6:c.193T= | ENSP00000512834.1:p.Cys65= | |
| ENST00000562983.3:c.193T= | ENSP00000512845.1:p.Cys65= | |
| ENST00000612663.6:c.*312T= | ENSP00000477997.3:n.*312T= | |
| ENST00000640140.2:n.1055T= | ||
| ENST00000640250.2:n.409T= | ||
| ENST00000640681.2:n.1014T= | ||
| ENST00000696723.1:n.4543T= | ||
| ENST00000696741.1:n.2548T= | ||
| ENST00000696742.1:n.2275T= | ||
| ENST00000696743.1:n.3678T= | ||
| ENST00000696744.1:n.949T= | ||
| ENST00000696767.1:n.1244T= | ||
| ENST00000696768.1:c.*233T= | ENSP00000512859.1:n.*233T= | |
| ENST00000696769.1:n.2599T= | ||
| ENST00000696771.1:c.193T= | ENSP00000512860.1:p.Cys65= | |
| ENST00000696772.1:n.2513T= | ||
| ENST00000696773.1:n.2252T= | ||
| ENST00000696774.1:n.6020T= | ||
| ENST00000696776.1:c.1003T= | ENSP00000512861.1:p.Cys335= | |
| ENST00000696777.1:n.2318T= | ||
| ENST00000696778.1:n.1346T= | ||
| ENST00000696779.1:c.517T= | ENSP00000512862.1:p.Cys173= | |
| ENST00000696780.1:c.940T= | ENSP00000512863.1:p.Cys314= | |
| ENST00000696781.1:c.655T= | ENSP00000512864.1:p.Cys219= | |
| ENST00000696782.1:c.*312T= | ENSP00000512865.1:n.*312T= | |
| ENST00000696783.1:n.2778T= | ||
| ENST00000696992.1:n.2027T= | ||
| ENST00000696995.1:n.4439T= | ||
| ENST00000696996.1:n.2352T= | ||
| ENST00000696997.1:c.*540T= | ENSP00000513028.1:n.*540T= | |
| ENST00000696998.1:n.2164T= | ||
| ENST00000696999.1:c.193T= | ENSP00000513029.1:p.Cys65= | |
| ENST00000697036.1:c.*326T= | ENSP00000513060.1:n.*326T= | |
| ENST00000697037.1:n.945T= | ||
| ENST00000697093.1:n.3146T= | ||
| ENST00000697094.1:n.3493T= | ||
| ENST00000697095.1:c.*2111T= | ENSP00000513104.1:n.*2111T= | |
| ENST00000697096.1:n.2043T= | ||
| ENST00000697097.1:c.193T= | ENSP00000513105.1:p.Cys65= | |
| ENST00000562983.2:n.1096T= | ||
| ENST00000690268.1:c.991T= | ENSP00000509810.1:p.Cys331= | |
| ENST00000355740.7:c.*236T= | ENSP00000347979.3:n.*236T= | |
| ENST00000612663.5:c.*312T= | ENSP00000477997.3:n.*312T= | |
| ENST00000640140.1:n.1082T= | ||
| ENST00000640250.1:n.409T= | ||
| ENST00000640681.1:n.1031T= | ||
| ENST00000652046.1:c.910T= MANE Select | ENSP00000498466.1:p.Cys304= | |
| ENST00000352159.8:c.*227T= | ENSP00000345601.4:n.*227T= | |
| ENST00000355279.2:c.885T= | ENSP00000347426.2:n.885T= | |
| ENST00000355740.6:c.910T= | ENSP00000347979.2:p.Cys304= | |
| ENST00000357339.6:c.847T= | ENSP00000349896.2:p.Cys283= | |
| ENST00000479522.5:c.*339T= | ENSP00000424113.1:n.*339T= | |
| ENST00000484444.5:c.*351T= | ENSP00000420975.1:n.*351T= | |
| ENST00000488877.5:c.*351T= | ENSP00000425159.1:n.*351T= | |
| ENST00000492756.5:c.738T= | ENSP00000422453.1:n.738T= | |
| ENST00000494410.5:c.*268T= | ENSP00000423755.1:n.*268T= | |
| ENST00000612663.4:c.*257T= | ENSP00000477997.2:n.*257T= | |
| NM_000043.4:c.910T= , LRG_134t1:c.910T= | NP_000034.1:p.Cys304= | |
| NM_152871.2:c.847T= | NP_690610.1:p.Cys283= | |
| NM_152872.2:c.*222T= | NP_690611.1:n.*222T= | |
| NR_028033.2:n.1084T= | ||
| NR_028034.2:n.946T= | ||
| NR_028035.2:n.1009T= | ||
| NR_028036.2:n.1147T= | ||
| XM_006717819.2:c.991T= | XP_006717882.1:p.Cys331= | |
| XM_011539764.1:c.1072T= | XP_011538066.1:p.Cys358= | |
| XM_011539765.1:c.1009T= | XP_011538067.1:p.Cys337= | |
| XM_011539766.1:c.991T= | XP_011538068.1:p.Cys331= | |
| XM_011539767.1:c.955T= | XP_011538069.1:p.Cys319= | |
| XR_945732.1:n.978T= | ||
| XR_945733.1:n.915T= | ||
| NM_000043.5:c.910T= | NP_000034.1:p.Cys304= | |
| NM_001320619.1:c.*233T= | NP_001307548.1:n.*233T= | |
| NM_152871.3:c.847T= | NP_690610.1:p.Cys283= | |
| NM_152872.3:c.*222T= | NP_690611.1:n.*222T= | |
| NR_028033.3:n.1056T= | ||
| NR_028034.3:n.918T= | ||
| NR_028035.3:n.981T= | ||
| NR_028036.3:n.1119T= | ||
| NR_135313.1:n.1036T= | ||
| NR_135314.1:n.1219T= | ||
| NR_135315.1:n.972T= | ||
| XM_006717819.3:c.991T= | XP_006717882.1:p.Cys331= | |
| XM_011539764.2:c.1072T= | XP_011538066.1:p.Cys358= | |
| XM_011539765.2:c.1009T= | XP_011538067.1:p.Cys337= | |
| XM_011539766.2:c.991T= | XP_011538068.1:p.Cys331= | |
| XM_011539767.3:c.955T= | XP_011538069.1:p.Cys319= | |
| XR_945732.3:n.978T= | ||
| XR_945733.2:n.915T= | ||
| NM_000043.6:c.910T= MANE Select | NP_000034.1:p.Cys304= | |
| NM_001320619.2:c.*233T= | NP_001307548.1:n.*233T= | |
| NM_152871.4:c.847T= | NP_690610.1:p.Cys283= | |
| NM_152872.4:c.*222T= | NP_690611.1:n.*222T= | |
| NR_028033.4:n.817T= | ||
| NR_028034.4:n.679T= | ||
| NR_028035.4:n.742T= | ||
| NR_028036.4:n.880T= | ||
| NR_135313.2:n.797T= | ||
| NR_135314.2:n.1076T= | ||
| NR_135315.2:n.829T= |