Canonical Allele Identifier: CA5056741

Linked Data

dbSNP Id: rs376979572
gnomAD v2: 9-36246361-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36246364G>T , CM000671.2:g.36246364G>T GRCh38
NC_000009.11:g.36246361G>T , CM000671.1:g.36246361G>T GRCh37
NC_000009.10:g.36236361G>T NCBI36
NG_008246.1:g.35681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.376C>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Leu126Met
ENST00000543356.7:c.106C>A (GNE) ENSP00000437765.3:p.Leu36Met
ENST00000642385.2:c.283C>A (GNE) MANE Select ENSP00000494141.2:p.Leu95Met
ENST00000377902.5:c.283C>A (GNE) ENSP00000367134.4:p.Leu95Met
ENST00000396594.7:c.376C>A (GNE) ENSP00000379839.3:p.Leu126Met
ENST00000447283.6:c.283C>A (GNE) ENSP00000414760.2:p.Leu95Met
ENST00000464497.5:c.486-16834G>T (CLTA) ENSP00000419158.1:n.486-16834G>T
ENST00000539208.5:c.106C>A (GNE) ENSP00000445117.1:p.Leu36Met
ENST00000539815.5:c.283C>A (GNE) ENSP00000439155.1:p.Leu95Met
ENST00000543356.6:c.268C>A (GNE) ENSP00000437765.2:p.Leu90Met
NM_001128227.2:c.376C>A (GNE) NP_001121699.1:p.Leu126Met
NM_001190383.1:c.283C>A (GNE) NP_001177312.1:p.Leu95Met
NM_001190384.1:c.106C>A (GNE) NP_001177313.1:p.Leu36Met
NM_001190388.1:c.268C>A (GNE) NP_001177317.1:p.Leu90Met
NM_005476.5:c.283C>A (GNE) NP_005467.1:p.Leu95Met
XM_005251334.3:c.376C>A (GNE) XP_005251391.1:p.Leu126Met
NM_001190383.2:c.283C>A (GNE) NP_001177312.1:p.Leu95Met
NM_001190384.2:c.106C>A (GNE) NP_001177313.1:p.Leu36Met
NM_005476.6:c.283C>A (GNE) NP_005467.1:p.Leu95Met
XM_005251334.4:c.376C>A (GNE) XP_005251391.1:p.Leu126Met
XM_017014167.1:c.283C>A (GNE) XP_016869656.1:p.Leu95Met
XM_017014168.1:c.283C>A (GNE) XP_016869657.1:p.Leu95Met
NM_001128227.3:c.376C>A (GNE) MANE Plus Clinical NP_001121699.1:p.Leu126Met
NM_001190383.3:c.283C>A (GNE) NP_001177312.1:p.Leu95Met
NM_001190384.3:c.106C>A (GNE) NP_001177313.1:p.Leu36Met
NM_001190388.2:c.106C>A (GNE) NP_001177317.2:p.Leu36Met
NM_001374797.1:c.283C>A (GNE) NP_001361726.1:p.Leu95Met
NM_001374798.1:c.106C>A (GNE) NP_001361727.1:p.Leu36Met
NM_005476.7:c.283C>A (GNE) MANE Select NP_005467.1:p.Leu95Met