Revel Score:
ENST00000377902
0.872
ENST00000396594 (MANE Plus Clinical)
0.872
ENST00000339267
0.872
ENST00000539815
0.872
ENST00000486079
0.872
ENST00000543356
0.872
ENST00000539208
0.872
ENST00000447283
0.872
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36233985C>T , CM000671.2:g.36233985C>T | GRCh38 |
| NC_000009.11:g.36233982C>T , CM000671.1:g.36233982C>T | GRCh37 |
| NC_000009.10:g.36223982C>T | NCBI36 |
| NG_008246.1:g.48060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1010G>A (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Arg337Gln | |
| ENST00000543356.7:c.740G>A (GNE) | ENSP00000437765.3:p.Arg247Gln | |
| ENST00000642385.2:c.917G>A (GNE) MANE Select | ENSP00000494141.2:p.Arg306Gln | |
| ENST00000377902.5:c.917G>A (GNE) | ENSP00000367134.4:p.Arg306Gln | |
| ENST00000396594.7:c.1010G>A (GNE) | ENSP00000379839.3:p.Arg337Gln | |
| ENST00000447283.6:c.917G>A (GNE) | ENSP00000414760.2:p.Arg306Gln | |
| ENST00000464497.5:c.486-29213C>T (CLTA) | ENSP00000419158.1:n.486-29213C>T | |
| ENST00000539208.5:c.587G>A (GNE) | ENSP00000445117.1:p.Arg196Gln | |
| ENST00000539815.5:c.917G>A (GNE) | ENSP00000439155.1:p.Arg306Gln | |
| ENST00000543356.6:c.902G>A (GNE) | ENSP00000437765.2:p.Arg301Gln | |
| NM_001128227.2:c.1010G>A (GNE) | NP_001121699.1:p.Arg337Gln | |
| NM_001190383.1:c.917G>A (GNE) | NP_001177312.1:p.Arg306Gln | |
| NM_001190384.1:c.587G>A (GNE) | NP_001177313.1:p.Arg196Gln | |
| NM_001190388.1:c.902G>A (GNE) | NP_001177317.1:p.Arg301Gln | |
| NM_005476.5:c.917G>A (GNE) | NP_005467.1:p.Arg306Gln | |
| XM_005251334.3:c.857G>A (GNE) | XP_005251391.1:p.Arg286Gln | |
| NM_001190383.2:c.917G>A (GNE) | NP_001177312.1:p.Arg306Gln | |
| NM_001190384.2:c.587G>A (GNE) | NP_001177313.1:p.Arg196Gln | |
| NM_005476.6:c.917G>A (GNE) | NP_005467.1:p.Arg306Gln | |
| XM_005251334.4:c.857G>A (GNE) | XP_005251391.1:p.Arg286Gln | |
| XM_017014167.1:c.917G>A (GNE) | XP_016869656.1:p.Arg306Gln | |
| XM_017014168.1:c.764G>A (GNE) | XP_016869657.1:p.Arg255Gln | |
| NM_001128227.3:c.1010G>A (GNE) MANE Plus Clinical | NP_001121699.1:p.Arg337Gln | |
| NM_001190383.3:c.917G>A (GNE) | NP_001177312.1:p.Arg306Gln | |
| NM_001190384.3:c.587G>A (GNE) | NP_001177313.1:p.Arg196Gln | |
| NM_001190388.2:c.740G>A (GNE) | NP_001177317.2:p.Arg247Gln | |
| NM_001374797.1:c.764G>A (GNE) | NP_001361726.1:p.Arg255Gln | |
| NM_001374798.1:c.740G>A (GNE) | NP_001361727.1:p.Arg247Gln | |
| NM_005476.7:c.917G>A (GNE) MANE Select | NP_005467.1:p.Arg306Gln |