Revel Score:
ENST00000377902
0.778
ENST00000396594 (MANE Plus Clinical)
0.778
ENST00000339267
0.778
ENST00000539815
0.778
ENST00000486079
0.778
ENST00000543356
0.778
ENST00000447283
0.778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36236903A>G , CM000671.2:g.36236903A>G | GRCh38 |
| NC_000009.11:g.36236900A>G , CM000671.1:g.36236900A>G | GRCh37 |
| NC_000009.10:g.36226900A>G | NCBI36 |
| NG_008246.1:g.45142T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.791T>C (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Phe264Ser | |
| ENST00000543356.7:c.521T>C (GNE) | ENSP00000437765.3:p.Phe174Ser | |
| ENST00000642385.2:c.698T>C (GNE) MANE Select | ENSP00000494141.2:p.Phe233Ser | |
| ENST00000377902.5:c.698T>C (GNE) | ENSP00000367134.4:p.Phe233Ser | |
| ENST00000396594.7:c.791T>C (GNE) | ENSP00000379839.3:p.Phe264Ser | |
| ENST00000447283.6:c.698T>C (GNE) | ENSP00000414760.2:p.Phe233Ser | |
| ENST00000464497.5:c.486-26295A>G (CLTA) | ENSP00000419158.1:n.486-26295A>G | |
| ENST00000539208.5:c.440-2771T>C (GNE) | ENSP00000445117.1:n.440-2771T>C | |
| ENST00000539815.5:c.698T>C (GNE) | ENSP00000439155.1:p.Phe233Ser | |
| ENST00000543356.6:c.683T>C (GNE) | ENSP00000437765.2:p.Phe228Ser | |
| NM_001128227.2:c.791T>C (GNE) | NP_001121699.1:p.Phe264Ser | |
| NM_001190383.1:c.698T>C (GNE) | NP_001177312.1:p.Phe233Ser | |
| NM_001190384.1:c.440-2771T>C (GNE) | NP_001177313.1:n.440-2771T>C | |
| NM_001190388.1:c.683T>C (GNE) | NP_001177317.1:p.Phe228Ser | |
| NM_005476.5:c.698T>C (GNE) | NP_005467.1:p.Phe233Ser | |
| XM_005251334.3:c.710-2771T>C (GNE) | XP_005251391.1:n.710-2771T>C | |
| NM_001190383.2:c.698T>C (GNE) | NP_001177312.1:p.Phe233Ser | |
| NM_001190384.2:c.440-2771T>C (GNE) | NP_001177313.1:n.440-2771T>C | |
| NM_005476.6:c.698T>C (GNE) | NP_005467.1:p.Phe233Ser | |
| XM_005251334.4:c.710-2771T>C (GNE) | XP_005251391.1:n.710-2771T>C | |
| XM_017014167.1:c.698T>C (GNE) | XP_016869656.1:p.Phe233Ser | |
| XM_017014168.1:c.617-2771T>C (GNE) | XP_016869657.1:n.617-2771T>C | |
| NM_001128227.3:c.791T>C (GNE) MANE Plus Clinical | NP_001121699.1:p.Phe264Ser | |
| NM_001190383.3:c.698T>C (GNE) | NP_001177312.1:p.Phe233Ser | |
| NM_001190384.3:c.440-2771T>C (GNE) | NP_001177313.1:n.440-2771T>C | |
| NM_001190388.2:c.521T>C (GNE) | NP_001177317.2:p.Phe174Ser | |
| NM_001374797.1:c.617-2771T>C (GNE) | NP_001361726.1:n.617-2771T>C | |
| NM_001374798.1:c.521T>C (GNE) | NP_001361727.1:p.Phe174Ser | |
| NM_005476.7:c.698T>C (GNE) MANE Select | NP_005467.1:p.Phe233Ser |