Linked Data
ClinVar Variation Id:
194025
dbSNP Id:
rs121908627
ExAC:
9:36217445 C / A
gnomAD v2:
9-36217445-C-A
gnomAD v3:
9-36217448-C-A
gnomAD v4:
9-36217448-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36217448C>A , CM000671.2:g.36217448C>A | GRCh38 |
| NC_000009.11:g.36217445C>A , CM000671.1:g.36217445C>A | GRCh37 |
| NC_000009.10:g.36207445C>A | NCBI36 |
| NG_008246.1:g.64597G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.2179G>T (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Val727Leu | |
| ENST00000543356.7:c.1909G>T (GNE) | ENSP00000437765.3:p.Val637Leu | |
| ENST00000642385.2:c.2086G>T (GNE) MANE Select | ENSP00000494141.2:p.Val696Leu | |
| ENST00000377902.5:c.2086G>T (GNE) | ENSP00000367134.4:p.Val696Leu | |
| ENST00000396594.7:c.2179G>T (GNE) | ENSP00000379839.3:p.Val727Leu | |
| ENST00000447283.6:c.1864G>T (GNE) | ENSP00000414760.2:p.Val622Leu | |
| ENST00000464497.5:c.485+13269C>A (CLTA) | ENSP00000419158.1:n.485+13269C>A | |
| ENST00000539208.5:c.1756G>T (GNE) | ENSP00000445117.1:p.Val586Leu | |
| ENST00000539815.5:c.2086G>T (GNE) | ENSP00000439155.1:p.Val696Leu | |
| ENST00000543356.6:c.2071G>T (GNE) | ENSP00000437765.2:p.Val691Leu | |
| NM_001128227.2:c.2179G>T (GNE) | NP_001121699.1:p.Val727Leu | |
| NM_001190383.1:c.1864G>T (GNE) | NP_001177312.1:p.Val622Leu | |
| NM_001190384.1:c.1756G>T (GNE) | NP_001177313.1:p.Val586Leu | |
| NM_001190388.1:c.2071G>T (GNE) | NP_001177317.1:p.Val691Leu | |
| NM_005476.5:c.2086G>T (GNE) | NP_005467.1:p.Val696Leu | |
| XM_005251334.3:c.2026G>T (GNE) | XP_005251391.1:p.Val676Leu | |
| NM_001190383.2:c.1864G>T (GNE) | NP_001177312.1:p.Val622Leu | |
| NM_001190384.2:c.1756G>T (GNE) | NP_001177313.1:p.Val586Leu | |
| NM_005476.6:c.2086G>T (GNE) | NP_005467.1:p.Val696Leu | |
| XM_005251334.4:c.2026G>T (GNE) | XP_005251391.1:p.Val676Leu | |
| XM_017014167.1:c.2086G>T (GNE) | XP_016869656.1:p.Val696Leu | |
| XM_017014168.1:c.1933G>T (GNE) | XP_016869657.1:p.Val645Leu | |
| NM_001128227.3:c.2179G>T (GNE) MANE Plus Clinical | NP_001121699.1:p.Val727Leu | |
| NM_001190383.3:c.1864G>T (GNE) | NP_001177312.1:p.Val622Leu | |
| NM_001190384.3:c.1756G>T (GNE) | NP_001177313.1:p.Val586Leu | |
| NM_001190388.2:c.1909G>T (GNE) | NP_001177317.2:p.Val637Leu | |
| NM_001374797.1:c.1933G>T (GNE) | NP_001361726.1:p.Val645Leu | |
| NM_001374798.1:c.1909G>T (GNE) | NP_001361727.1:p.Val637Leu | |
| NM_005476.7:c.2086G>T (GNE) MANE Select | NP_005467.1:p.Val696Leu |