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_000020.11:g.58903573A= , CM000682.2:g.58903573A= | GRCh38 |
| NC_000020.10:g.57478628A= , CM000682.1:g.57478628A= | GRCh37 |
| NC_000020.9:g.56912023A= | NCBI36 |
| NG_016194.1:g.68834A= | |
| NG_016194.2:g.68834A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2184A= | ENSP00000265621.6:p.Lys728= | |
| ENST00000419558.7:c.*158A= | ENSP00000416234.2:n.*158A= | |
| ENST00000453292.7:c.899A= | ENSP00000392000.2:n.899A= | |
| ENST00000462499.6:c.81A= | ENSP00000499758.2:p.Lys27= | |
| ENST00000464624.7:c.*142A= | ENSP00000499607.2:n.*142A= | |
| ENST00000464788.6:c.123A= | ENSP00000499239.2:p.Lys41= | |
| ENST00000467227.6:c.81A= | ENSP00000499681.2:p.Lys27= | |
| ENST00000467321.6:c.123A= | ENSP00000499523.2:p.Lys41= | |
| ENST00000468895.6:c.300A= | ENSP00000499551.2:p.Lys100= | |
| ENST00000469431.6:c.123A= | ENSP00000499654.2:p.Lys41= | |
| ENST00000470512.6:c.126A= | ENSP00000499552.2:p.Lys42= | |
| ENST00000472183.6:c.123A= | ENSP00000499673.2:p.Lys41= | |
| ENST00000475610.2:n.806A= | ||
| ENST00000476935.6:c.78A= | ENSP00000499409.2:p.Lys26= | |
| ENST00000478585.6:c.81A= | ENSP00000499762.2:p.Lys27= | |
| ENST00000480232.6:c.126A= | ENSP00000499545.2:p.Lys42= | |
| ENST00000481039.6:c.81A= | ENSP00000499767.2:p.Lys27= | |
| ENST00000482112.6:c.78A= | ENSP00000499794.2:p.Lys26= | |
| ENST00000485673.6:c.81A= | ENSP00000499334.2:p.Lys27= | |
| ENST00000488546.6:c.81A= | ENSP00000499332.2:p.Lys27= | |
| ENST00000488652.6:c.123A= | ENSP00000499435.2:p.Lys41= | |
| ENST00000492907.6:c.81A= | ENSP00000499443.2:p.Lys27= | |
| ENST00000603546.2:c.123A= | ENSP00000474802.2:p.Lys41= | |
| ENST00000604005.6:c.123A= | ENSP00000474219.2:p.Lys41= | |
| ENST00000663479.2:c.126A= | ENSP00000499353.2:p.Lys42= | |
| ENST00000667293.2:c.123A= | ENSP00000499293.2:p.Lys41= | |
| ENST00000676826.2:c.2232A= | ENSP00000504675.2:p.Lys744= | |
| ENST00000682092.1:n.806A= | ||
| ENST00000682134.1:n.2226A= | ||
| ENST00000682411.1:n.804A= | ||
| ENST00000682590.1:n.806A= | ||
| ENST00000682680.1:n.734A= | ||
| ENST00000682803.1:c.-28A= | ENSP00000507069.1:n.-28A= | |
| ENST00000682829.1:n.2628A= | ||
| ENST00000682917.1:n.742A= | ||
| ENST00000682986.1:n.806A= | ||
| ENST00000683015.1:c.1070A= | ENSP00000506815.1:n.1070A= | |
| ENST00000683632.1:n.815A= | ||
| ENST00000683932.1:n.804A= | ||
| ENST00000684284.1:n.2678A= | ||
| ENST00000684466.1:n.806A= | ||
| ENST00000684644.1:n.806A= | ||
| ENST00000684761.1:n.806A= | ||
| ENST00000306090.12:c.204A= | ENSP00000304472.12:p.Lys68= | |
| ENST00000349036.8:c.2184A= | ENSP00000265621.5:p.Lys728= | |
| ENST00000354359.12:c.303A= | ENSP00000346328.7:p.Lys101= | |
| ENST00000371085.8:c.300A= MANE Select | ENSP00000360126.3:p.Lys100= | |
| ENST00000371100.9:c.2229A= MANE Plus Clinical | ENSP00000360141.3:p.Lys743= | |
| ENST00000419558.6:c.*158A= | ENSP00000416234.2:n.*158A= | |
| ENST00000461152.6:c.1028A= | ENSP00000499274.1:n.1028A= | |
| ENST00000490374.6:n.465A= | ||
| ENST00000657090.1:c.123A= | ENSP00000499380.1:p.Lys41= | |
| ENST00000663479.1:c.126A= | ENSP00000499353.1:p.Lys42= | |
| ENST00000667293.1:c.171A= | ENSP00000499293.1:p.Lys57= | |
| ENST00000676826.1:c.2232A= | ENSP00000504675.1:p.Lys744= | |
| ENST00000265620.11:c.255A= | ENSP00000265620.7:p.Lys85= | |
| ENST00000306090.11:c.94-6194A= | ENSP00000304472.11:n.94-6194A= | |
| ENST00000313949.11:c.*203A= | ENSP00000323571.7:n.*203A= | |
| ENST00000349036.7:c.351A= | ENSP00000265621.4:p.Lys117= | |
| ENST00000354359.11:c.303A= | ENSP00000346328.7:p.Lys101= | |
| ENST00000371075.7:c.*206A= MANE Plus Clinical | ENSP00000360115.3:n.*206A= | |
| ENST00000371085.7:c.300A= | ENSP00000360126.3:p.Lys100= | |
| ENST00000371095.7:c.258A= | ENSP00000360136.3:p.Lys86= | |
| ENST00000371100.8:c.2229A= | ENSP00000360141.3:p.Lys743= | |
| ENST00000371102.8:c.2187A= | ENSP00000360143.4:p.Lys729= | |
| ENST00000419558.5:c.499A= | ||
| ENST00000450130.5:c.343A= | ||
| ENST00000461152.5:n.266A= | ||
| ENST00000462499.5:n.377A= | ||
| ENST00000464624.6:n.2516A= | ||
| ENST00000464788.5:n.228A= | ||
| ENST00000467227.5:n.241A= | ||
| ENST00000467321.5:n.315A= | ||
| ENST00000468895.5:n.169A= | ||
| ENST00000469431.5:n.417A= | ||
| ENST00000470512.5:n.374A= | ||
| ENST00000472183.5:n.552A= | ||
| ENST00000476196.5:n.593A= | ||
| ENST00000476935.5:n.289A= | ||
| ENST00000477931.5:n.415A= | ||
| ENST00000478585.5:n.313A= | ||
| ENST00000480232.5:n.319A= | ||
| ENST00000480975.5:n.299A= | ||
| ENST00000481039.5:n.217A= | ||
| ENST00000482112.5:n.374A= | ||
| ENST00000485673.5:n.545A= | ||
| ENST00000487862.5:n.534A= | ||
| ENST00000487981.5:n.37A= | ||
| ENST00000488546.5:n.159A= | ||
| ENST00000488652.5:n.390A= | ||
| ENST00000490374.5:n.418A= | ||
| ENST00000492907.5:n.251A= | ||
| ENST00000494081.5:n.43A= | ||
| ENST00000496934.5:n.1589A= | ||
| ENST00000603546.1:c.123A= | ENSP00000474802.1:p.Lys41= | |
| ENST00000604005.5:c.123A= | ENSP00000474219.1:p.Lys41= | |
| NM_000516.4:c.300A= | NP_000507.1:p.Lys100= | |
| NM_000516.5:c.300A= | NP_000507.1:p.Lys100= | |
| NM_001077488.2:c.303A= | NP_001070956.1:p.Lys101= | |
| NM_001077488.3:c.303A= | NP_001070956.1:p.Lys101= | |
| NM_001077489.2:c.255A= | NP_001070957.1:p.Lys85= | |
| NM_001077489.3:c.255A= | NP_001070957.1:p.Lys85= | |
| NM_001077490.1:c.*161A= | NP_001070958.1:n.*161A= | |
| NM_001077490.2:c.*161A= | NP_001070958.1:n.*161A= | |
| NM_001309840.1:c.123A= | NP_001296769.1:p.Lys41= | |
| NM_001309861.1:c.123A= | NP_001296790.1:p.Lys41= | |
| NM_016592.2:c.*206A= | NP_057676.1:n.*206A= | |
| NM_016592.3:c.*206A= | NP_057676.1:n.*206A= | |
| NM_080425.2:c.2229A= | NP_536350.2:p.Lys743= | |
| NM_080425.3:c.2229A= | NP_536350.2:p.Lys743= | |
| NM_080426.2:c.258A= | NP_536351.1:p.Lys86= | |
| NM_080426.3:c.258A= | NP_536351.1:p.Lys86= | |
| NR_003259.1:c.-4294966906A= | ||
| XM_017027812.2:c.2232A= | XP_016883301.1:p.Lys744= | |
| XM_017027813.2:c.2187A= | XP_016883302.1:p.Lys729= | |
| XM_017027814.2:c.2184A= | XP_016883303.1:p.Lys728= | |
| XM_017027815.1:c.159A= | XP_016883304.1:p.Lys53= | |
| XM_017027816.1:c.78A= | XP_016883305.1:p.Lys26= | |
| XM_017027817.1:c.78A= | XP_016883306.1:p.Lys26= | |
| XM_017027818.2:c.78A= | XP_016883307.1:p.Lys26= | |
| XM_017027819.1:c.78A= | XP_016883308.1:p.Lys26= | |
| XM_017027820.1:c.78A= | XP_016883309.1:p.Lys26= | |
| XM_017027821.1:c.*203A= | XP_016883310.1:n.*203A= | |
| XM_017027822.1:c.*158A= | XP_016883311.1:n.*158A= | |
| XM_024451872.1:c.204A= | XP_024307640.1:p.Lys68= | |
| XM_024451873.1:c.123A= | XP_024307641.1:p.Lys41= | |
| XM_024451874.1:c.123A= | XP_024307642.1:p.Lys41= | |
| XM_024451875.1:c.123A= | XP_024307643.1:p.Lys41= | |
| XR_002958471.1:n.1007A= | ||
| NM_000516.6:c.300A= | NP_000507.1:p.Lys100= | |
| NM_001077488.4:c.303A= | NP_001070956.1:p.Lys101= | |
| NM_001077489.4:c.255A= | NP_001070957.1:p.Lys85= | |
| NM_001309840.2:c.123A= | NP_001296769.1:p.Lys41= | |
| NM_001309861.2:c.123A= | NP_001296790.1:p.Lys41= | |
| NM_016592.4:c.*206A= | NP_057676.1:n.*206A= | |
| NM_080426.4:c.258A= | NP_536351.1:p.Lys86= | |
| NM_000516.7:c.300A= MANE Select | NP_000507.1:p.Lys100= | |
| NM_001077488.5:c.303A= | NP_001070956.1:p.Lys101= | |
| NM_001077490.3:c.*161A= | NP_001070958.1:n.*161A= | |
| NM_016592.5:c.*206A= MANE Plus Clinical | NP_057676.1:n.*206A= | |
| NM_080425.4:c.2229A= MANE Plus Clinical | NP_536350.2:p.Lys743= |