Linked Data
ClinVar Variation Id:
1203461
dbSNP Id:
rs551854437
ExAC:
9:36222978 G / A
gnomAD v2:
9-36222978-G-A
gnomAD v3:
9-36222981-G-A
gnomAD v4:
9-36222981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36222981G>A , CM000671.2:g.36222981G>A | GRCh38 |
| NC_000009.11:g.36222978G>A , CM000671.1:g.36222978G>A | GRCh37 |
| NC_000009.10:g.36212978G>A | NCBI36 |
| NG_008246.1:g.59064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1522C>T (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Arg508Cys | |
| ENST00000543356.7:c.1252C>T (GNE) | ENSP00000437765.3:p.Arg418Cys | |
| ENST00000642385.2:c.1429C>T (GNE) MANE Select | ENSP00000494141.2:p.Arg477Cys | |
| ENST00000377902.5:c.1429C>T (GNE) | ENSP00000367134.4:p.Arg477Cys | |
| ENST00000396594.7:c.1522C>T (GNE) | ENSP00000379839.3:p.Arg508Cys | |
| ENST00000447283.6:c.1411+392C>T (GNE) | ENSP00000414760.2:n.1411+392C>T | |
| ENST00000464497.5:c.485+18802G>A (CLTA) | ENSP00000419158.1:n.485+18802G>A | |
| ENST00000539208.5:c.1099C>T (GNE) | ENSP00000445117.1:p.Arg367Cys | |
| ENST00000539815.5:c.1429C>T (GNE) | ENSP00000439155.1:p.Arg477Cys | |
| ENST00000543356.6:c.1414C>T (GNE) | ENSP00000437765.2:p.Arg472Cys | |
| NM_001128227.2:c.1522C>T (GNE) | NP_001121699.1:p.Arg508Cys | |
| NM_001190383.1:c.1411+392C>T (GNE) | NP_001177312.1:n.1411+392C>T | |
| NM_001190384.1:c.1099C>T (GNE) | NP_001177313.1:p.Arg367Cys | |
| NM_001190388.1:c.1414C>T (GNE) | NP_001177317.1:p.Arg472Cys | |
| NM_005476.5:c.1429C>T (GNE) | NP_005467.1:p.Arg477Cys | |
| XM_005251334.3:c.1369C>T (GNE) | XP_005251391.1:p.Arg457Cys | |
| NM_001190383.2:c.1411+392C>T (GNE) | NP_001177312.1:n.1411+392C>T | |
| NM_001190384.2:c.1099C>T (GNE) | NP_001177313.1:p.Arg367Cys | |
| NM_005476.6:c.1429C>T (GNE) | NP_005467.1:p.Arg477Cys | |
| XM_005251334.4:c.1369C>T (GNE) | XP_005251391.1:p.Arg457Cys | |
| XM_017014167.1:c.1429C>T (GNE) | XP_016869656.1:p.Arg477Cys | |
| XM_017014168.1:c.1276C>T (GNE) | XP_016869657.1:p.Arg426Cys | |
| NM_001128227.3:c.1522C>T (GNE) MANE Plus Clinical | NP_001121699.1:p.Arg508Cys | |
| NM_001190383.3:c.1411+392C>T (GNE) | NP_001177312.1:n.1411+392C>T | |
| NM_001190384.3:c.1099C>T (GNE) | NP_001177313.1:p.Arg367Cys | |
| NM_001190388.2:c.1252C>T (GNE) | NP_001177317.2:p.Arg418Cys | |
| NM_001374797.1:c.1276C>T (GNE) | NP_001361726.1:p.Arg426Cys | |
| NM_001374798.1:c.1252C>T (GNE) | NP_001361727.1:p.Arg418Cys | |
| NM_005476.7:c.1429C>T (GNE) MANE Select | NP_005467.1:p.Arg477Cys |