Linked Data
ClinVar Variation Id:
2192267
ClinVar RCV Id:
RCV002621022
dbSNP Id:
rs752650334
gnomAD v2:
9-36246039-C-T
gnomAD v3:
9-36246042-C-T
gnomAD v4:
9-36246042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36246042C>T , CM000671.2:g.36246042C>T | GRCh38 |
| NC_000009.11:g.36246039C>T , CM000671.1:g.36246039C>T | GRCh37 |
| NC_000009.10:g.36236039C>T | NCBI36 |
| NG_008246.1:g.36003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.698G>A (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Arg233His | |
| ENST00000543356.7:c.428G>A (GNE) | ENSP00000437765.3:p.Arg143His | |
| ENST00000642385.2:c.605G>A (GNE) MANE Select | ENSP00000494141.2:p.Arg202His | |
| ENST00000377902.5:c.605G>A (GNE) | ENSP00000367134.4:p.Arg202His | |
| ENST00000396594.7:c.698G>A (GNE) | ENSP00000379839.3:p.Arg233His | |
| ENST00000447283.6:c.605G>A (GNE) | ENSP00000414760.2:p.Arg202His | |
| ENST00000464497.5:c.486-17156C>T (CLTA) | ENSP00000419158.1:n.486-17156C>T | |
| ENST00000539208.5:c.428G>A (GNE) | ENSP00000445117.1:p.Arg143His | |
| ENST00000539815.5:c.605G>A (GNE) | ENSP00000439155.1:p.Arg202His | |
| ENST00000543356.6:c.590G>A (GNE) | ENSP00000437765.2:p.Arg197His | |
| NM_001128227.2:c.698G>A (GNE) | NP_001121699.1:p.Arg233His | |
| NM_001190383.1:c.605G>A (GNE) | NP_001177312.1:p.Arg202His | |
| NM_001190384.1:c.428G>A (GNE) | NP_001177313.1:p.Arg143His | |
| NM_001190388.1:c.590G>A (GNE) | NP_001177317.1:p.Arg197His | |
| NM_005476.5:c.605G>A (GNE) | NP_005467.1:p.Arg202His | |
| XM_005251334.3:c.698G>A (GNE) | XP_005251391.1:p.Arg233His | |
| NM_001190383.2:c.605G>A (GNE) | NP_001177312.1:p.Arg202His | |
| NM_001190384.2:c.428G>A (GNE) | NP_001177313.1:p.Arg143His | |
| NM_005476.6:c.605G>A (GNE) | NP_005467.1:p.Arg202His | |
| XM_005251334.4:c.698G>A (GNE) | XP_005251391.1:p.Arg233His | |
| XM_017014167.1:c.605G>A (GNE) | XP_016869656.1:p.Arg202His | |
| XM_017014168.1:c.605G>A (GNE) | XP_016869657.1:p.Arg202His | |
| NM_001128227.3:c.698G>A (GNE) MANE Plus Clinical | NP_001121699.1:p.Arg233His | |
| NM_001190383.3:c.605G>A (GNE) | NP_001177312.1:p.Arg202His | |
| NM_001190384.3:c.428G>A (GNE) | NP_001177313.1:p.Arg143His | |
| NM_001190388.2:c.428G>A (GNE) | NP_001177317.2:p.Arg143His | |
| NM_001374797.1:c.605G>A (GNE) | NP_001361726.1:p.Arg202His | |
| NM_001374798.1:c.428G>A (GNE) | NP_001361727.1:p.Arg143His | |
| NM_005476.7:c.605G>A (GNE) MANE Select | NP_005467.1:p.Arg202His |