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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014277C>G , CM000672.2:g.89014277C>G | GRCh38 |
| NC_000010.10:g.90774034C>G , CM000672.1:g.90774034C>G | GRCh37 |
| NC_000010.9:g.90764014C>G | NCBI36 |
| NG_009089.2:g.28747C>G , LRG_134:g.28747C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1144C>G | ||
| ENST00000355740.8:c.*158C>G | ENSP00000347979.3:n.*158C>G | |
| ENST00000357339.7:c.772C>G | ENSP00000349896.2:p.Arg258Gly | |
| ENST00000371857.8:n.2380C>G | ||
| ENST00000460510.6:c.118C>G | ENSP00000512812.1:p.Arg40Gly | |
| ENST00000466081.6:n.2484C>G | ||
| ENST00000477270.6:c.880C>G | ENSP00000512813.1:p.Arg294Gly | |
| ENST00000479522.6:c.*264C>G | ENSP00000424113.1:n.*264C>G | |
| ENST00000484444.6:c.*276C>G | ENSP00000420975.1:n.*276C>G | |
| ENST00000488877.6:c.726C>G | ENSP00000425159.1:n.726C>G | |
| ENST00000492756.7:c.*264C>G | ENSP00000422453.1:n.*264C>G | |
| ENST00000494799.6:c.118C>G | ENSP00000512834.1:p.Arg40Gly | |
| ENST00000562983.3:c.118C>G | ENSP00000512845.1:p.Arg40Gly | |
| ENST00000612663.6:c.*237C>G | ENSP00000477997.3:n.*237C>G | |
| ENST00000640140.2:n.980C>G | ||
| ENST00000640250.2:n.334C>G | ||
| ENST00000640681.2:n.939C>G | ||
| ENST00000696723.1:n.4468C>G | ||
| ENST00000696741.1:n.2473C>G | ||
| ENST00000696742.1:n.2200C>G | ||
| ENST00000696743.1:n.3603C>G | ||
| ENST00000696744.1:n.874C>G | ||
| ENST00000696767.1:n.1169C>G | ||
| ENST00000696768.1:c.*158C>G | ENSP00000512859.1:n.*158C>G | |
| ENST00000696769.1:n.2524C>G | ||
| ENST00000696771.1:c.118C>G | ENSP00000512860.1:p.Arg40Gly | |
| ENST00000696772.1:n.2438C>G | ||
| ENST00000696773.1:n.2177C>G | ||
| ENST00000696774.1:n.5945C>G | ||
| ENST00000696776.1:c.928C>G | ENSP00000512861.1:p.Arg310Gly | |
| ENST00000696777.1:n.2243C>G | ||
| ENST00000696778.1:n.1271C>G | ||
| ENST00000696779.1:c.442C>G | ENSP00000512862.1:p.Arg148Gly | |
| ENST00000696780.1:c.865C>G | ENSP00000512863.1:p.Arg289Gly | |
| ENST00000696781.1:c.580C>G | ENSP00000512864.1:p.Arg194Gly | |
| ENST00000696782.1:c.*237C>G | ENSP00000512865.1:n.*237C>G | |
| ENST00000696783.1:n.2703C>G | ||
| ENST00000696992.1:n.1952C>G | ||
| ENST00000696995.1:n.4364C>G | ||
| ENST00000696996.1:n.2277C>G | ||
| ENST00000696997.1:c.*465C>G | ENSP00000513028.1:n.*465C>G | |
| ENST00000696998.1:n.2089C>G | ||
| ENST00000696999.1:c.118C>G | ENSP00000513029.1:p.Arg40Gly | |
| ENST00000697035.1:c.*168C>G | ENSP00000513059.1:n.*168C>G | |
| ENST00000697036.1:c.*251C>G | ENSP00000513060.1:n.*251C>G | |
| ENST00000697037.1:n.870C>G | ||
| ENST00000697093.1:n.3071C>G | ||
| ENST00000697094.1:n.3418C>G | ||
| ENST00000697095.1:c.*2036C>G | ENSP00000513104.1:n.*2036C>G | |
| ENST00000697096.1:n.1968C>G | ||
| ENST00000697097.1:c.118C>G | ENSP00000513105.1:p.Arg40Gly | |
| ENST00000562983.2:n.1021C>G | ||
| ENST00000690268.1:c.916C>G | ENSP00000509810.1:p.Arg306Gly | |
| ENST00000355740.7:c.*161C>G | ENSP00000347979.3:n.*161C>G | |
| ENST00000612663.5:c.*237C>G | ENSP00000477997.3:n.*237C>G | |
| ENST00000640140.1:n.1007C>G | ||
| ENST00000640250.1:n.334C>G | ||
| ENST00000640681.1:n.956C>G | ||
| ENST00000652046.1:c.835C>G MANE Select | ENSP00000498466.1:p.Arg279Gly | |
| ENST00000352159.8:c.*152C>G | ENSP00000345601.4:n.*152C>G | |
| ENST00000355279.2:c.810C>G | ENSP00000347426.2:n.810C>G | |
| ENST00000355740.6:c.835C>G | ENSP00000347979.2:p.Arg279Gly | |
| ENST00000357339.6:c.772C>G | ENSP00000349896.2:p.Arg258Gly | |
| ENST00000479522.5:c.*264C>G | ENSP00000424113.1:n.*264C>G | |
| ENST00000484444.5:c.*276C>G | ENSP00000420975.1:n.*276C>G | |
| ENST00000488877.5:c.*276C>G | ENSP00000425159.1:n.*276C>G | |
| ENST00000492756.5:c.663C>G | ENSP00000422453.1:n.663C>G | |
| ENST00000494410.5:c.*193C>G | ENSP00000423755.1:n.*193C>G | |
| ENST00000612663.4:c.*182C>G | ENSP00000477997.2:n.*182C>G | |
| NM_000043.4:c.835C>G , LRG_134t1:c.835C>G | NP_000034.1:p.Arg279Gly | |
| NM_152871.2:c.772C>G | NP_690610.1:p.Arg258Gly | |
| NM_152872.2:c.*147C>G | NP_690611.1:n.*147C>G | |
| NR_028033.2:n.1009C>G | ||
| NR_028034.2:n.871C>G | ||
| NR_028035.2:n.934C>G | ||
| NR_028036.2:n.1072C>G | ||
| XM_006717819.2:c.916C>G | XP_006717882.1:p.Arg306Gly | |
| XM_011539764.1:c.997C>G | XP_011538066.1:p.Arg333Gly | |
| XM_011539765.1:c.934C>G | XP_011538067.1:p.Arg312Gly | |
| XM_011539766.1:c.916C>G | XP_011538068.1:p.Arg306Gly | |
| XM_011539767.1:c.880C>G | XP_011538069.1:p.Arg294Gly | |
| XR_945732.1:n.903C>G | ||
| XR_945733.1:n.840C>G | ||
| NM_000043.5:c.835C>G | NP_000034.1:p.Arg279Gly | |
| NM_001320619.1:c.*158C>G | NP_001307548.1:n.*158C>G | |
| NM_152871.3:c.772C>G | NP_690610.1:p.Arg258Gly | |
| NM_152872.3:c.*147C>G | NP_690611.1:n.*147C>G | |
| NR_028033.3:n.981C>G | ||
| NR_028034.3:n.843C>G | ||
| NR_028035.3:n.906C>G | ||
| NR_028036.3:n.1044C>G | ||
| NR_135313.1:n.961C>G | ||
| NR_135314.1:n.1144C>G | ||
| NR_135315.1:n.897C>G | ||
| XM_006717819.3:c.916C>G | XP_006717882.1:p.Arg306Gly | |
| XM_011539764.2:c.997C>G | XP_011538066.1:p.Arg333Gly | |
| XM_011539765.2:c.934C>G | XP_011538067.1:p.Arg312Gly | |
| XM_011539766.2:c.916C>G | XP_011538068.1:p.Arg306Gly | |
| XM_011539767.3:c.880C>G | XP_011538069.1:p.Arg294Gly | |
| XR_945732.3:n.903C>G | ||
| XR_945733.2:n.840C>G | ||
| NM_000043.6:c.835C>G MANE Select | NP_000034.1:p.Arg279Gly | |
| NM_001320619.2:c.*158C>G | NP_001307548.1:n.*158C>G | |
| NM_152871.4:c.772C>G | NP_690610.1:p.Arg258Gly | |
| NM_152872.4:c.*147C>G | NP_690611.1:n.*147C>G | |
| NR_028033.4:n.742C>G | ||
| NR_028034.4:n.604C>G | ||
| NR_028035.4:n.667C>G | ||
| NR_028036.4:n.805C>G | ||
| NR_135313.2:n.722C>G | ||
| NR_135314.2:n.1001C>G | ||
| NR_135315.2:n.754C>G |