Linked Data
ClinVar Variation Id:
218297
dbSNP Id:
rs779694939
ExAC:
9:36236951 A / G
gnomAD v2:
9-36236951-A-G
gnomAD v3:
9-36236954-A-G
gnomAD v4:
9-36236954-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36236954A>G , CM000671.2:g.36236954A>G | GRCh38 |
| NC_000009.11:g.36236951A>G , CM000671.1:g.36236951A>G | GRCh37 |
| NC_000009.10:g.36226951A>G | NCBI36 |
| NG_008246.1:g.45091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.740T>C (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Val247Ala | |
| ENST00000543356.7:c.470T>C (GNE) | ENSP00000437765.3:p.Val157Ala | |
| ENST00000642385.2:c.647T>C (GNE) MANE Select | ENSP00000494141.2:p.Val216Ala | |
| ENST00000377902.5:c.647T>C (GNE) | ENSP00000367134.4:p.Val216Ala | |
| ENST00000396594.7:c.740T>C (GNE) | ENSP00000379839.3:p.Val247Ala | |
| ENST00000447283.6:c.647T>C (GNE) | ENSP00000414760.2:p.Val216Ala | |
| ENST00000464497.5:c.486-26244A>G (CLTA) | ENSP00000419158.1:n.486-26244A>G | |
| ENST00000539208.5:c.440-2822T>C (GNE) | ENSP00000445117.1:n.440-2822T>C | |
| ENST00000539815.5:c.647T>C (GNE) | ENSP00000439155.1:p.Val216Ala | |
| ENST00000543356.6:c.632T>C (GNE) | ENSP00000437765.2:p.Val211Ala | |
| NM_001128227.2:c.740T>C (GNE) | NP_001121699.1:p.Val247Ala | |
| NM_001190383.1:c.647T>C (GNE) | NP_001177312.1:p.Val216Ala | |
| NM_001190384.1:c.440-2822T>C (GNE) | NP_001177313.1:n.440-2822T>C | |
| NM_001190388.1:c.632T>C (GNE) | NP_001177317.1:p.Val211Ala | |
| NM_005476.5:c.647T>C (GNE) | NP_005467.1:p.Val216Ala | |
| XM_005251334.3:c.710-2822T>C (GNE) | XP_005251391.1:n.710-2822T>C | |
| NM_001190383.2:c.647T>C (GNE) | NP_001177312.1:p.Val216Ala | |
| NM_001190384.2:c.440-2822T>C (GNE) | NP_001177313.1:n.440-2822T>C | |
| NM_005476.6:c.647T>C (GNE) | NP_005467.1:p.Val216Ala | |
| XM_005251334.4:c.710-2822T>C (GNE) | XP_005251391.1:n.710-2822T>C | |
| XM_017014167.1:c.647T>C (GNE) | XP_016869656.1:p.Val216Ala | |
| XM_017014168.1:c.617-2822T>C (GNE) | XP_016869657.1:n.617-2822T>C | |
| NM_001128227.3:c.740T>C (GNE) MANE Plus Clinical | NP_001121699.1:p.Val247Ala | |
| NM_001190383.3:c.647T>C (GNE) | NP_001177312.1:p.Val216Ala | |
| NM_001190384.3:c.440-2822T>C (GNE) | NP_001177313.1:n.440-2822T>C | |
| NM_001190388.2:c.470T>C (GNE) | NP_001177317.2:p.Val157Ala | |
| NM_001374797.1:c.617-2822T>C (GNE) | NP_001361726.1:n.617-2822T>C | |
| NM_001374798.1:c.470T>C (GNE) | NP_001361727.1:p.Val157Ala | |
| NM_005476.7:c.647T>C (GNE) MANE Select | NP_005467.1:p.Val216Ala |