Linked Data
ClinVar Variation Id:
502447
ClinVar RCV Id:
RCV000591663
dbSNP Id:
rs368762704
ExAC:
9:36276944 C / T
gnomAD v2:
9-36276944-C-T
gnomAD v3:
9-36276947-C-T
gnomAD v4:
9-36276947-C-T
COSMIC:
COSM422372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36276947C>T , CM000671.2:g.36276947C>T | GRCh38 |
| NC_000009.11:g.36276944C>T , CM000671.1:g.36276944C>T | GRCh37 |
| NC_000009.10:g.36266944C>T | NCBI36 |
| NG_008246.1:g.5098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.-3G>A (GNE) MANE Plus Clinical | ENSP00000379839.3:n.-3G>A | |
| ENST00000543356.7:c.-67G>A (GNE) | ENSP00000437765.3:n.-67G>A | |
| ENST00000644762.1:n.30G>A (GNE) | ||
| ENST00000396594.7:c.-3G>A (GNE) | ENSP00000379839.3:n.-3G>A | |
| ENST00000464497.5:c.*101+11373C>T (CLTA) | ENSP00000419158.1:n.*101+11373C>T | |
| ENST00000543356.6:c.96G>A (GNE) | ENSP00000437765.2:p.Ser32= | |
| NM_001128227.2:c.-3G>A (GNE) | NP_001121699.1:n.-3G>A | |
| NM_001190388.1:c.96G>A (GNE) | NP_001177317.1:p.Ser32= | |
| XM_005251334.3:c.-3G>A (GNE) | XP_005251391.1:n.-3G>A | |
| XR_929584.1:n.462-11260C>T | ||
| XR_929585.1:n.659-11260C>T | ||
| XM_005251334.4:c.-3G>A (GNE) | XP_005251391.1:n.-3G>A | |
| XR_001746655.1:n.255-11260C>T | ||
| XR_001746656.1:n.463-11260C>T | ||
| XR_001746657.1:n.255-11260C>T | ||
| XR_001746658.1:n.254+11373C>T | ||
| XR_001746659.1:n.255-11260C>T | ||
| XR_001746660.1:n.255-11260C>T | ||
| XR_001746661.1:n.255-11260C>T | ||
| NM_001128227.3:c.-3G>A (GNE) MANE Plus Clinical | NP_001121699.1:n.-3G>A | |
| NM_001190388.2:c.-67G>A (GNE) | NP_001177317.2:n.-67G>A |