Revel Score:
ENST00000377902
0.476
ENST00000396594 (MANE Plus Clinical)
0.476
ENST00000339267
0.476
ENST00000539815
0.476
ENST00000543356
0.476
ENST00000539208
0.476
ENST00000447283
0.476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36227248C>A , CM000671.2:g.36227248C>A | GRCh38 |
| NC_000009.11:g.36227245C>A , CM000671.1:g.36227245C>A | GRCh37 |
| NC_000009.10:g.36217245C>A | NCBI36 |
| NG_008246.1:g.54797G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1374G>T (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Lys458Asn | |
| ENST00000543356.7:c.1104G>T (GNE) | ENSP00000437765.3:p.Lys368Asn | |
| ENST00000642385.2:c.1281G>T (GNE) MANE Select | ENSP00000494141.2:p.Lys427Asn | |
| ENST00000377902.5:c.1281G>T (GNE) | ENSP00000367134.4:p.Lys427Asn | |
| ENST00000396594.7:c.1374G>T (GNE) | ENSP00000379839.3:p.Lys458Asn | |
| ENST00000447283.6:c.1281G>T (GNE) | ENSP00000414760.2:p.Lys427Asn | |
| ENST00000464497.5:c.485+23069C>A (CLTA) | ENSP00000419158.1:n.485+23069C>A | |
| ENST00000539208.5:c.951G>T (GNE) | ENSP00000445117.1:p.Lys317Asn | |
| ENST00000539815.5:c.1281G>T (GNE) | ENSP00000439155.1:p.Lys427Asn | |
| ENST00000543356.6:c.1266G>T (GNE) | ENSP00000437765.2:p.Lys422Asn | |
| NM_001128227.2:c.1374G>T (GNE) | NP_001121699.1:p.Lys458Asn | |
| NM_001190383.1:c.1281G>T (GNE) | NP_001177312.1:p.Lys427Asn | |
| NM_001190384.1:c.951G>T (GNE) | NP_001177313.1:p.Lys317Asn | |
| NM_001190388.1:c.1266G>T (GNE) | NP_001177317.1:p.Lys422Asn | |
| NM_005476.5:c.1281G>T (GNE) | NP_005467.1:p.Lys427Asn | |
| XM_005251334.3:c.1221G>T (GNE) | XP_005251391.1:p.Lys407Asn | |
| NM_001190383.2:c.1281G>T (GNE) | NP_001177312.1:p.Lys427Asn | |
| NM_001190384.2:c.951G>T (GNE) | NP_001177313.1:p.Lys317Asn | |
| NM_005476.6:c.1281G>T (GNE) | NP_005467.1:p.Lys427Asn | |
| XM_005251334.4:c.1221G>T (GNE) | XP_005251391.1:p.Lys407Asn | |
| XM_017014167.1:c.1281G>T (GNE) | XP_016869656.1:p.Lys427Asn | |
| XM_017014168.1:c.1128G>T (GNE) | XP_016869657.1:p.Lys376Asn | |
| NM_001128227.3:c.1374G>T (GNE) MANE Plus Clinical | NP_001121699.1:p.Lys458Asn | |
| NM_001190383.3:c.1281G>T (GNE) | NP_001177312.1:p.Lys427Asn | |
| NM_001190384.3:c.951G>T (GNE) | NP_001177313.1:p.Lys317Asn | |
| NM_001190388.2:c.1104G>T (GNE) | NP_001177317.2:p.Lys368Asn | |
| NM_001374797.1:c.1128G>T (GNE) | NP_001361726.1:p.Lys376Asn | |
| NM_001374798.1:c.1104G>T (GNE) | NP_001361727.1:p.Lys368Asn | |
| NM_005476.7:c.1281G>T (GNE) MANE Select | NP_005467.1:p.Lys427Asn |