Linked Data
ClinVar Variation Id:
288432
dbSNP Id:
rs141172610
ExAC:
9:36222898 G / C
gnomAD v2:
9-36222898-G-C
gnomAD v3:
9-36222901-G-C
gnomAD v4:
9-36222901-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36222901G>C , CM000671.2:g.36222901G>C | GRCh38 |
| NC_000009.11:g.36222898G>C , CM000671.1:g.36222898G>C | GRCh37 |
| NC_000009.10:g.36212898G>C | NCBI36 |
| NG_008246.1:g.59144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1602C>G (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Pro534= | |
| ENST00000543356.7:c.1332C>G (GNE) | ENSP00000437765.3:p.Pro444= | |
| ENST00000642385.2:c.1509C>G (GNE) MANE Select | ENSP00000494141.2:p.Pro503= | |
| ENST00000377902.5:c.1509C>G (GNE) | ENSP00000367134.4:p.Pro503= | |
| ENST00000396594.7:c.1602C>G (GNE) | ENSP00000379839.3:p.Pro534= | |
| ENST00000447283.6:c.1411+472C>G (GNE) | ENSP00000414760.2:n.1411+472C>G | |
| ENST00000464497.5:c.485+18722G>C (CLTA) | ENSP00000419158.1:n.485+18722G>C | |
| ENST00000539208.5:c.1179C>G (GNE) | ENSP00000445117.1:p.Pro393= | |
| ENST00000539815.5:c.1509C>G (GNE) | ENSP00000439155.1:p.Pro503= | |
| ENST00000543356.6:c.1494C>G (GNE) | ENSP00000437765.2:p.Pro498= | |
| NM_001128227.2:c.1602C>G (GNE) | NP_001121699.1:p.Pro534= | |
| NM_001190383.1:c.1411+472C>G (GNE) | NP_001177312.1:n.1411+472C>G | |
| NM_001190384.1:c.1179C>G (GNE) | NP_001177313.1:p.Pro393= | |
| NM_001190388.1:c.1494C>G (GNE) | NP_001177317.1:p.Pro498= | |
| NM_005476.5:c.1509C>G (GNE) | NP_005467.1:p.Pro503= | |
| XM_005251334.3:c.1449C>G (GNE) | XP_005251391.1:p.Pro483= | |
| NM_001190383.2:c.1411+472C>G (GNE) | NP_001177312.1:n.1411+472C>G | |
| NM_001190384.2:c.1179C>G (GNE) | NP_001177313.1:p.Pro393= | |
| NM_005476.6:c.1509C>G (GNE) | NP_005467.1:p.Pro503= | |
| XM_005251334.4:c.1449C>G (GNE) | XP_005251391.1:p.Pro483= | |
| XM_017014167.1:c.1509C>G (GNE) | XP_016869656.1:p.Pro503= | |
| XM_017014168.1:c.1356C>G (GNE) | XP_016869657.1:p.Pro452= | |
| NM_001128227.3:c.1602C>G (GNE) MANE Plus Clinical | NP_001121699.1:p.Pro534= | |
| NM_001190383.3:c.1411+472C>G (GNE) | NP_001177312.1:n.1411+472C>G | |
| NM_001190384.3:c.1179C>G (GNE) | NP_001177313.1:p.Pro393= | |
| NM_001190388.2:c.1332C>G (GNE) | NP_001177317.2:p.Pro444= | |
| NM_001374797.1:c.1356C>G (GNE) | NP_001361726.1:p.Pro452= | |
| NM_001374798.1:c.1332C>G (GNE) | NP_001361727.1:p.Pro444= | |
| NM_005476.7:c.1509C>G (GNE) MANE Select | NP_005467.1:p.Pro503= |