Linked Data
ClinVar Variation Id:
366847
dbSNP Id:
rs142004500
gnomAD v2:
9-36258427-C-A
gnomAD v3:
9-36258430-C-A
gnomAD v4:
9-36258430-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36258430C>A , CM000671.2:g.36258430C>A | GRCh38 |
| NC_000009.11:g.36258427C>A , CM000671.1:g.36258427C>A | GRCh37 |
| NC_000009.10:g.36248427C>A | NCBI36 |
| NG_008246.1:g.23615G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.52-9033G>T (GNE) MANE Plus Clinical | ENSP00000379839.3:n.52-9033G>T | |
| ENST00000543356.7:c.-13-11948G>T (GNE) | ENSP00000437765.3:n.-13-11948G>T | |
| ENST00000642385.2:c.-152G>T (GNE) MANE Select | ENSP00000494141.2:n.-152G>T | |
| ENST00000377902.5:c.-152G>T (GNE) | ENSP00000367134.4:n.-152G>T | |
| ENST00000396594.7:c.52-9033G>T (GNE) | ENSP00000379839.3:n.52-9033G>T | |
| ENST00000464497.5:c.486-4768C>A (CLTA) | ENSP00000419158.1:n.486-4768C>A | |
| ENST00000539208.5:c.-123G>T (GNE) | ENSP00000445117.1:n.-123G>T | |
| ENST00000543356.6:c.150-11948G>T (GNE) | ENSP00000437765.2:n.150-11948G>T | |
| NM_001128227.2:c.52-9033G>T (GNE) | NP_001121699.1:n.52-9033G>T | |
| NM_001190383.1:c.-152G>T (GNE) | NP_001177312.1:n.-152G>T | |
| NM_001190384.1:c.-123G>T (GNE) | NP_001177313.1:n.-123G>T | |
| NM_001190388.1:c.150-11948G>T (GNE) | NP_001177317.1:n.150-11948G>T | |
| NM_005476.5:c.-152G>T (GNE) | NP_005467.1:n.-152G>T | |
| XM_005251334.3:c.52-9033G>T (GNE) | XP_005251391.1:n.52-9033G>T | |
| XR_929584.1:n.307+279C>A | ||
| NM_001190383.2:c.-152G>T (GNE) | NP_001177312.1:n.-152G>T | |
| NM_001190384.2:c.-123G>T (GNE) | NP_001177313.1:n.-123G>T | |
| NM_005476.6:c.-152G>T (GNE) | NP_005467.1:n.-152G>T | |
| XM_005251334.4:c.52-9033G>T (GNE) | XP_005251391.1:n.52-9033G>T | |
| XM_017014168.1:c.-152G>T (GNE) | XP_016869657.1:n.-152G>T | |
| XR_001746656.1:n.308+279C>A | ||
| NM_001128227.3:c.52-9033G>T (GNE) MANE Plus Clinical | NP_001121699.1:n.52-9033G>T | |
| NM_001190383.3:c.-152G>T (GNE) | NP_001177312.1:n.-152G>T | |
| NM_001190384.3:c.-123G>T (GNE) | NP_001177313.1:n.-123G>T | |
| NM_001190388.2:c.-13-11948G>T (GNE) | NP_001177317.2:n.-13-11948G>T | |
| NM_001374797.1:c.-152G>T (GNE) | NP_001361726.1:n.-152G>T | |
| NM_001374798.1:c.-123G>T (GNE) | NP_001361727.1:n.-123G>T | |
| NM_005476.7:c.-152G>T (GNE) MANE Select | NP_005467.1:n.-152G>T |