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_000010.11:g.89014174A= , CM000672.2:g.89014174A= | GRCh38 |
| NC_000010.10:g.90773931A= , CM000672.1:g.90773931A= | GRCh37 |
| NC_000010.9:g.90763911A= | NCBI36 |
| NG_009089.2:g.28644A= , LRG_134:g.28644A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1041A= | ||
| ENST00000355740.8:c.*55A= | ENSP00000347979.3:n.*55A= | |
| ENST00000357339.7:c.669A= | ENSP00000349896.2:p.Gln223= | |
| ENST00000371857.8:n.2277A= | ||
| ENST00000460510.6:c.15A= | ENSP00000512812.1:p.Gln5= | |
| ENST00000466081.6:n.2381A= | ||
| ENST00000477270.6:c.777A= | ENSP00000512813.1:p.Gln259= | |
| ENST00000479522.6:c.*161A= | ENSP00000424113.1:n.*161A= | |
| ENST00000484444.6:c.*173A= | ENSP00000420975.1:n.*173A= | |
| ENST00000488877.6:c.623A= | ENSP00000425159.1:n.623A= | |
| ENST00000492756.7:c.*161A= | ENSP00000422453.1:n.*161A= | |
| ENST00000494799.6:c.15A= | ENSP00000512834.1:p.Gln5= | |
| ENST00000562983.3:c.15A= | ENSP00000512845.1:p.Gln5= | |
| ENST00000612663.6:c.*134A= | ENSP00000477997.3:n.*134A= | |
| ENST00000640140.2:n.877A= | ||
| ENST00000640250.2:n.231A= | ||
| ENST00000640681.2:n.836A= | ||
| ENST00000696723.1:n.4365A= | ||
| ENST00000696741.1:n.2370A= | ||
| ENST00000696742.1:n.2097A= | ||
| ENST00000696743.1:n.3500A= | ||
| ENST00000696744.1:n.771A= | ||
| ENST00000696767.1:n.1066A= | ||
| ENST00000696768.1:c.*55A= | ENSP00000512859.1:n.*55A= | |
| ENST00000696769.1:n.2421A= | ||
| ENST00000696771.1:c.15A= | ENSP00000512860.1:p.Gln5= | |
| ENST00000696772.1:n.2335A= | ||
| ENST00000696773.1:n.2074A= | ||
| ENST00000696774.1:n.5842A= | ||
| ENST00000696776.1:c.825A= | ENSP00000512861.1:p.Gln275= | |
| ENST00000696777.1:n.2140A= | ||
| ENST00000696778.1:n.1168A= | ||
| ENST00000696779.1:c.339A= | ENSP00000512862.1:p.Gln113= | |
| ENST00000696780.1:c.762A= | ENSP00000512863.1:p.Gln254= | |
| ENST00000696781.1:c.477A= | ENSP00000512864.1:p.Gln159= | |
| ENST00000696782.1:c.*134A= | ENSP00000512865.1:n.*134A= | |
| ENST00000696783.1:n.2600A= | ||
| ENST00000696992.1:n.1849A= | ||
| ENST00000696995.1:n.4261A= | ||
| ENST00000696996.1:n.2174A= | ||
| ENST00000696997.1:c.*362A= | ENSP00000513028.1:n.*362A= | |
| ENST00000696998.1:n.1986A= | ||
| ENST00000696999.1:c.15A= | ENSP00000513029.1:p.Gln5= | |
| ENST00000697035.1:c.*65A= | ENSP00000513059.1:n.*65A= | |
| ENST00000697036.1:c.*148A= | ENSP00000513060.1:n.*148A= | |
| ENST00000697037.1:n.767A= | ||
| ENST00000697093.1:n.2968A= | ||
| ENST00000697094.1:n.3315A= | ||
| ENST00000697095.1:c.*1933A= | ENSP00000513104.1:n.*1933A= | |
| ENST00000697096.1:n.1865A= | ||
| ENST00000697097.1:c.15A= | ENSP00000513105.1:p.Gln5= | |
| ENST00000562983.2:n.918A= | ||
| ENST00000690268.1:c.813A= | ENSP00000509810.1:p.Gln271= | |
| ENST00000355740.7:c.*58A= | ENSP00000347979.3:n.*58A= | |
| ENST00000612663.5:c.*134A= | ENSP00000477997.3:n.*134A= | |
| ENST00000640140.1:n.904A= | ||
| ENST00000640250.1:n.231A= | ||
| ENST00000640681.1:n.853A= | ||
| ENST00000652046.1:c.732A= MANE Select | ENSP00000498466.1:p.Gln244= | |
| ENST00000313771.9:n.1041A= | ||
| ENST00000352159.8:c.*49A= | ENSP00000345601.4:n.*49A= | |
| ENST00000355279.2:c.707A= | ENSP00000347426.2:n.707A= | |
| ENST00000355740.6:c.732A= | ENSP00000347979.2:p.Gln244= | |
| ENST00000357339.6:c.669A= | ENSP00000349896.2:p.Gln223= | |
| ENST00000479522.5:c.*161A= | ENSP00000424113.1:n.*161A= | |
| ENST00000484444.5:c.*173A= | ENSP00000420975.1:n.*173A= | |
| ENST00000488877.5:c.*173A= | ENSP00000425159.1:n.*173A= | |
| ENST00000492756.5:c.560A= | ENSP00000422453.1:n.560A= | |
| ENST00000494410.5:c.*90A= | ENSP00000423755.1:n.*90A= | |
| ENST00000494799.5:n.639A= | ||
| ENST00000612663.4:c.*79A= | ENSP00000477997.2:n.*79A= | |
| ENST00000615406.4:c.732A= | ENSP00000484575.1:p.Gln244= | |
| ENST00000626542.2:c.730A= | ENSP00000485876.1:p.Ser244= | |
| NM_000043.4:c.732A= , LRG_134t1:c.732A= | NP_000034.1:p.Gln244= | |
| NM_152871.2:c.669A= | NP_690610.1:p.Gln223= | |
| NM_152872.2:c.*44A= | NP_690611.1:n.*44A= | |
| NR_028033.2:n.906A= | ||
| NR_028034.2:n.768A= | ||
| NR_028035.2:n.831A= | ||
| NR_028036.2:n.969A= | ||
| XM_006717819.2:c.813A= | XP_006717882.1:p.Gln271= | |
| XM_011539764.1:c.894A= | XP_011538066.1:p.Gln298= | |
| XM_011539765.1:c.831A= | XP_011538067.1:p.Gln277= | |
| XM_011539766.1:c.813A= | XP_011538068.1:p.Gln271= | |
| XM_011539767.1:c.777A= | XP_011538069.1:p.Gln259= | |
| XR_945732.1:n.800A= | ||
| XR_945733.1:n.737A= | ||
| NM_000043.5:c.732A= | NP_000034.1:p.Gln244= | |
| NM_001320619.1:c.*55A= | NP_001307548.1:n.*55A= | |
| NM_152871.3:c.669A= | NP_690610.1:p.Gln223= | |
| NM_152872.3:c.*44A= | NP_690611.1:n.*44A= | |
| NR_028033.3:n.878A= | ||
| NR_028034.3:n.740A= | ||
| NR_028035.3:n.803A= | ||
| NR_028036.3:n.941A= | ||
| NR_135313.1:n.858A= | ||
| NR_135314.1:n.1041A= | ||
| NR_135315.1:n.794A= | ||
| XM_006717819.3:c.813A= | XP_006717882.1:p.Gln271= | |
| XM_011539764.2:c.894A= | XP_011538066.1:p.Gln298= | |
| XM_011539765.2:c.831A= | XP_011538067.1:p.Gln277= | |
| XM_011539766.2:c.813A= | XP_011538068.1:p.Gln271= | |
| XM_011539767.3:c.777A= | XP_011538069.1:p.Gln259= | |
| XR_945732.3:n.800A= | ||
| XR_945733.2:n.737A= | ||
| NM_000043.6:c.732A= MANE Select | NP_000034.1:p.Gln244= | |
| NM_001320619.2:c.*55A= | NP_001307548.1:n.*55A= | |
| NM_152871.4:c.669A= | NP_690610.1:p.Gln223= | |
| NM_152872.4:c.*44A= | NP_690611.1:n.*44A= | |
| NR_028033.4:n.639A= | ||
| NR_028034.4:n.501A= | ||
| NR_028035.4:n.564A= | ||
| NR_028036.4:n.702A= | ||
| NR_135313.2:n.619A= | ||
| NR_135314.2:n.898A= | ||
| NR_135315.2:n.651A= |