UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45424242G= , CM000682.2:g.45424242G= | GRCh38 |
| NC_000020.10:g.44052882G= , CM000682.1:g.44052882G= | GRCh37 |
| NC_000020.9:g.43486296G= | NCBI36 |
| NG_047154.1:g.13176G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424705.3:c.1261G= | ENSP00000491856.2:p.Asp421= | |
| ENST00000638691.2:c.1261G= | ENSP00000492094.2:p.Asp421= | |
| ENST00000639292.2:c.1342G= | ENSP00000491678.2:p.Asp448= | |
| ENST00000640549.2:c.1261G= | ENSP00000492043.2:p.Asp421= | |
| ENST00000687237.1:n.651G= | ||
| ENST00000689203.1:c.1261G= | ENSP00000508682.1:p.Asp421= | |
| ENST00000690879.1:n.737G= | ||
| ENST00000692236.1:c.1261G= | ENSP00000509421.1:p.Asp421= | |
| ENST00000279035.14:c.955G= | ENSP00000279035.8:p.Asp319= | |
| ENST00000279036.12:c.1261G= MANE Select | ENSP00000279036.6:p.Asp421= | |
| ENST00000432270.2:c.754G= | ENSP00000408354.2:p.Asp252= | |
| ENST00000543458.7:c.1093G= | ENSP00000441577.1:p.Asp365= | |
| ENST00000545755.3:c.679G= | ENSP00000443963.3:p.Asp227= | |
| ENST00000638241.1:n.1139G= | ||
| ENST00000638246.1:c.*761G= | ENSP00000492883.1:n.*761G= | |
| ENST00000638277.1:c.195G= | ||
| ENST00000638383.1:c.*610G= | ENSP00000492295.1:n.*610G= | |
| ENST00000638387.1:c.*305G= | ENSP00000492873.1:n.*305G= | |
| ENST00000638415.1:c.798G= | ||
| ENST00000638445.1:c.*645G= | ENSP00000491297.1:n.*645G= | |
| ENST00000638537.1:n.1050G= | ||
| ENST00000638594.1:c.1261G= | ENSP00000491697.1:p.Asp421= | |
| ENST00000638612.1:c.1261G= | ENSP00000491458.1:p.Asp421= | |
| ENST00000638671.1:c.*645G= | ENSP00000492875.1:n.*645G= | |
| ENST00000638689.1:n.3468G= | ||
| ENST00000638691.1:c.18G= | ||
| ENST00000638710.1:c.1467G= | ENSP00000491406.1:n.1467G= | |
| ENST00000638714.1:c.*645G= | ENSP00000491194.1:n.*645G= | |
| ENST00000638745.1:c.*645G= | ENSP00000491744.1:n.*645G= | |
| ENST00000638927.1:c.403G= | ENSP00000492335.1:p.Asp135= | |
| ENST00000638938.1:c.*717G= | ENSP00000491171.1:n.*717G= | |
| ENST00000638962.1:n.1221G= | ||
| ENST00000638978.1:c.1211G= | ENSP00000492743.1:p.Gly404= | |
| ENST00000639250.1:n.2511G= | ||
| ENST00000639292.1:c.1121G= | ||
| ENST00000639382.1:c.1120G= | ENSP00000491534.1:p.Asp374= | |
| ENST00000639417.1:c.*305G= | ENSP00000491058.1:n.*305G= | |
| ENST00000639499.1:c.1261G= | ENSP00000491170.1:p.Asp421= | |
| ENST00000639664.1:n.988G= | ||
| ENST00000639783.1:c.*563G= | ENSP00000491772.1:n.*563G= | |
| ENST00000639872.1:n.830G= | ||
| ENST00000639932.1:c.*563G= | ENSP00000491600.1:n.*563G= | |
| ENST00000639984.1:c.*563G= | ENSP00000492727.1:n.*563G= | |
| ENST00000640107.1:c.*521G= | ENSP00000491118.1:n.*521G= | |
| ENST00000640108.1:c.*950G= | ENSP00000492007.1:n.*950G= | |
| ENST00000640175.1:c.*563G= | ENSP00000492418.1:n.*563G= | |
| ENST00000640194.1:c.*580G= | ENSP00000492279.1:n.*580G= | |
| ENST00000640210.1:c.850G= | ENSP00000491164.1:p.Asp284= | |
| ENST00000640253.1:n.475G= | ||
| ENST00000640272.1:c.*645G= | ENSP00000492270.1:n.*645G= | |
| ENST00000640324.1:c.1267G= | ENSP00000491074.1:p.Asp423= | |
| ENST00000640364.1:n.1984G= | ||
| ENST00000640542.1:c.1060G= | ENSP00000492174.1:p.Asp354= | |
| ENST00000640549.1:c.751G= | ENSP00000492043.1:p.Asp251= | |
| ENST00000640585.1:c.*918G= | ENSP00000491308.1:n.*918G= | |
| ENST00000640638.1:n.429G= | ||
| ENST00000640666.1:c.1261G= | ENSP00000491072.1:p.Asp421= | |
| ENST00000640692.1:c.*177G= | ENSP00000492370.1:n.*177G= | |
| ENST00000640940.1:n.923G= | ||
| ENST00000640986.1:c.*378G= | ENSP00000491886.1:n.*378G= | |
| ENST00000640996.1:c.*938G= | ENSP00000492464.1:n.*938G= | |
| ENST00000279035.13:c.955G= | ENSP00000279035.8:p.Asp319= | |
| ENST00000279036.10:c.1261G= | ENSP00000279036.6:p.Asp421= | |
| ENST00000372689.9:c.1060G= | ENSP00000361774.4:p.Asp354= | |
| ENST00000455050.2:c.*792G= | ENSP00000407574.2:n.*792G= | |
| ENST00000543458.6:c.1093G= | ENSP00000441577.1:p.Asp365= | |
| ENST00000545755.2:c.290G= | ||
| NM_001184728.2:c.1093G= | NP_001171657.1:p.Asp365= | |
| NM_001184729.2:c.1060G= | NP_001171658.1:p.Asp354= | |
| NM_001184730.2:c.955G= | NP_001171659.1:p.Asp319= | |
| NM_015937.5:c.1261G= | NP_057021.2:p.Asp421= | |
| NR_047691.1:n.1311G= | ||
| NR_047692.1:n.1254G= | ||
| NR_047693.1:n.1250G= | ||
| NR_047694.1:n.1173G= | ||
| NR_047695.1:n.944G= | ||
| XM_005260430.2:c.754G= | XP_005260487.1:p.Asp252= | |
| XM_005260432.1:c.475G= | XP_005260489.1:p.Asp159= | |
| XM_005260432.3:c.475G= | XP_005260489.1:p.Asp159= | |
| XR_001754286.2:n.1297G= | ||
| XR_001754287.2:n.1096G= | ||
| NM_015937.6:c.1261G= MANE Select | NP_057021.2:p.Asp421= | |
| NM_001184728.3:c.1093G= | NP_001171657.1:p.Asp365= | |
| NM_001184729.3:c.1060G= | NP_001171658.1:p.Asp354= | |
| NM_001184730.3:c.955G= | NP_001171659.1:p.Asp319= | |
| NR_047691.2:n.1237G= | ||
| NR_047692.2:n.1180G= | ||
| NR_047693.2:n.1176G= | ||
| NR_047694.2:n.1099G= | ||
| NR_047695.2:n.870G= |