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.89014278G= , CM000672.2:g.89014278G= | GRCh38 |
| NC_000010.10:g.90774035G= , CM000672.1:g.90774035G= | GRCh37 |
| NC_000010.9:g.90764015G= | NCBI36 |
| NG_009089.2:g.28748G= , LRG_134:g.28748G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1145G= | ||
| ENST00000355740.8:c.*159G= | ENSP00000347979.3:n.*159G= | |
| ENST00000357339.7:c.773G= | ENSP00000349896.2:p.Arg258= | |
| ENST00000371857.8:n.2381G= | ||
| ENST00000460510.6:c.119G= | ENSP00000512812.1:p.Arg40= | |
| ENST00000466081.6:n.2485G= | ||
| ENST00000477270.6:c.881G= | ENSP00000512813.1:p.Arg294= | |
| ENST00000479522.6:c.*265G= | ENSP00000424113.1:n.*265G= | |
| ENST00000484444.6:c.*277G= | ENSP00000420975.1:n.*277G= | |
| ENST00000488877.6:c.727G= | ENSP00000425159.1:n.727G= | |
| ENST00000492756.7:c.*265G= | ENSP00000422453.1:n.*265G= | |
| ENST00000494799.6:c.119G= | ENSP00000512834.1:p.Arg40= | |
| ENST00000562983.3:c.119G= | ENSP00000512845.1:p.Arg40= | |
| ENST00000612663.6:c.*238G= | ENSP00000477997.3:n.*238G= | |
| ENST00000640140.2:n.981G= | ||
| ENST00000640250.2:n.335G= | ||
| ENST00000640681.2:n.940G= | ||
| ENST00000696723.1:n.4469G= | ||
| ENST00000696741.1:n.2474G= | ||
| ENST00000696742.1:n.2201G= | ||
| ENST00000696743.1:n.3604G= | ||
| ENST00000696744.1:n.875G= | ||
| ENST00000696767.1:n.1170G= | ||
| ENST00000696768.1:c.*159G= | ENSP00000512859.1:n.*159G= | |
| ENST00000696769.1:n.2525G= | ||
| ENST00000696771.1:c.119G= | ENSP00000512860.1:p.Arg40= | |
| ENST00000696772.1:n.2439G= | ||
| ENST00000696773.1:n.2178G= | ||
| ENST00000696774.1:n.5946G= | ||
| ENST00000696776.1:c.929G= | ENSP00000512861.1:p.Arg310= | |
| ENST00000696777.1:n.2244G= | ||
| ENST00000696778.1:n.1272G= | ||
| ENST00000696779.1:c.443G= | ENSP00000512862.1:p.Arg148= | |
| ENST00000696780.1:c.866G= | ENSP00000512863.1:p.Arg289= | |
| ENST00000696781.1:c.581G= | ENSP00000512864.1:p.Arg194= | |
| ENST00000696782.1:c.*238G= | ENSP00000512865.1:n.*238G= | |
| ENST00000696783.1:n.2704G= | ||
| ENST00000696992.1:n.1953G= | ||
| ENST00000696995.1:n.4365G= | ||
| ENST00000696996.1:n.2278G= | ||
| ENST00000696997.1:c.*466G= | ENSP00000513028.1:n.*466G= | |
| ENST00000696998.1:n.2090G= | ||
| ENST00000696999.1:c.119G= | ENSP00000513029.1:p.Arg40= | |
| ENST00000697035.1:c.*169G= | ENSP00000513059.1:n.*169G= | |
| ENST00000697036.1:c.*252G= | ENSP00000513060.1:n.*252G= | |
| ENST00000697037.1:n.871G= | ||
| ENST00000697093.1:n.3072G= | ||
| ENST00000697094.1:n.3419G= | ||
| ENST00000697095.1:c.*2037G= | ENSP00000513104.1:n.*2037G= | |
| ENST00000697096.1:n.1969G= | ||
| ENST00000697097.1:c.119G= | ENSP00000513105.1:p.Arg40= | |
| ENST00000562983.2:n.1022G= | ||
| ENST00000690268.1:c.917G= | ENSP00000509810.1:p.Arg306= | |
| ENST00000355740.7:c.*162G= | ENSP00000347979.3:n.*162G= | |
| ENST00000612663.5:c.*238G= | ENSP00000477997.3:n.*238G= | |
| ENST00000640140.1:n.1008G= | ||
| ENST00000640250.1:n.335G= | ||
| ENST00000640681.1:n.957G= | ||
| ENST00000652046.1:c.836G= MANE Select | ENSP00000498466.1:p.Arg279= | |
| ENST00000352159.8:c.*153G= | ENSP00000345601.4:n.*153G= | |
| ENST00000355279.2:c.811G= | ENSP00000347426.2:n.811G= | |
| ENST00000355740.6:c.836G= | ENSP00000347979.2:p.Arg279= | |
| ENST00000357339.6:c.773G= | ENSP00000349896.2:p.Arg258= | |
| ENST00000479522.5:c.*265G= | ENSP00000424113.1:n.*265G= | |
| ENST00000484444.5:c.*277G= | ENSP00000420975.1:n.*277G= | |
| ENST00000488877.5:c.*277G= | ENSP00000425159.1:n.*277G= | |
| ENST00000492756.5:c.664G= | ENSP00000422453.1:n.664G= | |
| ENST00000494410.5:c.*194G= | ENSP00000423755.1:n.*194G= | |
| ENST00000612663.4:c.*183G= | ENSP00000477997.2:n.*183G= | |
| NM_000043.4:c.836G= , LRG_134t1:c.836G= | NP_000034.1:p.Arg279= | |
| NM_152871.2:c.773G= | NP_690610.1:p.Arg258= | |
| NM_152872.2:c.*148G= | NP_690611.1:n.*148G= | |
| NR_028033.2:n.1010G= | ||
| NR_028034.2:n.872G= | ||
| NR_028035.2:n.935G= | ||
| NR_028036.2:n.1073G= | ||
| XM_006717819.2:c.917G= | XP_006717882.1:p.Arg306= | |
| XM_011539764.1:c.998G= | XP_011538066.1:p.Arg333= | |
| XM_011539765.1:c.935G= | XP_011538067.1:p.Arg312= | |
| XM_011539766.1:c.917G= | XP_011538068.1:p.Arg306= | |
| XM_011539767.1:c.881G= | XP_011538069.1:p.Arg294= | |
| XR_945732.1:n.904G= | ||
| XR_945733.1:n.841G= | ||
| NM_000043.5:c.836G= | NP_000034.1:p.Arg279= | |
| NM_001320619.1:c.*159G= | NP_001307548.1:n.*159G= | |
| NM_152871.3:c.773G= | NP_690610.1:p.Arg258= | |
| NM_152872.3:c.*148G= | NP_690611.1:n.*148G= | |
| NR_028033.3:n.982G= | ||
| NR_028034.3:n.844G= | ||
| NR_028035.3:n.907G= | ||
| NR_028036.3:n.1045G= | ||
| NR_135313.1:n.962G= | ||
| NR_135314.1:n.1145G= | ||
| NR_135315.1:n.898G= | ||
| XM_006717819.3:c.917G= | XP_006717882.1:p.Arg306= | |
| XM_011539764.2:c.998G= | XP_011538066.1:p.Arg333= | |
| XM_011539765.2:c.935G= | XP_011538067.1:p.Arg312= | |
| XM_011539766.2:c.917G= | XP_011538068.1:p.Arg306= | |
| XM_011539767.3:c.881G= | XP_011538069.1:p.Arg294= | |
| XR_945732.3:n.904G= | ||
| XR_945733.2:n.841G= | ||
| NM_000043.6:c.836G= MANE Select | NP_000034.1:p.Arg279= | |
| NM_001320619.2:c.*159G= | NP_001307548.1:n.*159G= | |
| NM_152871.4:c.773G= | NP_690610.1:p.Arg258= | |
| NM_152872.4:c.*148G= | NP_690611.1:n.*148G= | |
| NR_028033.4:n.743G= | ||
| NR_028034.4:n.605G= | ||
| NR_028035.4:n.668G= | ||
| NR_028036.4:n.806G= | ||
| NR_135313.2:n.723G= | ||
| NR_135314.2:n.1002G= | ||
| NR_135315.2:n.755G= |