Canonical Allele Identifier: CA373425910

Linked Data

ClinVar Variation Id: 581094
dbSNP Id: rs1306768272
gnomAD v2: 9-36220012-C-A
gnomAD v3: 9-36220015-C-A
gnomAD v4: 9-36220015-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36220015C>A , CM000671.2:g.36220015C>A GRCh38
NC_000009.11:g.36220012C>A , CM000671.1:g.36220012C>A GRCh37
NC_000009.10:g.36210012C>A NCBI36
NG_008246.1:g.62030G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1732G>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Gly578Cys
ENST00000543356.7:c.1462G>T (GNE) ENSP00000437765.3:p.Gly488Cys
ENST00000642385.2:c.1639G>T (GNE) MANE Select ENSP00000494141.2:p.Gly547Cys
ENST00000377902.5:c.1639G>T (GNE) ENSP00000367134.4:p.Gly547Cys
ENST00000396594.7:c.1732G>T (GNE) ENSP00000379839.3:p.Gly578Cys
ENST00000447283.6:c.1417G>T (GNE) ENSP00000414760.2:p.Gly473Cys
ENST00000464497.5:c.485+15836C>A (CLTA) ENSP00000419158.1:n.485+15836C>A
ENST00000539208.5:c.1309G>T (GNE) ENSP00000445117.1:p.Gly437Cys
ENST00000539815.5:c.1639G>T (GNE) ENSP00000439155.1:p.Gly547Cys
ENST00000543356.6:c.1624G>T (GNE) ENSP00000437765.2:p.Gly542Cys
NM_001128227.2:c.1732G>T (GNE) NP_001121699.1:p.Gly578Cys
NM_001190383.1:c.1417G>T (GNE) NP_001177312.1:p.Gly473Cys
NM_001190384.1:c.1309G>T (GNE) NP_001177313.1:p.Gly437Cys
NM_001190388.1:c.1624G>T (GNE) NP_001177317.1:p.Gly542Cys
NM_005476.5:c.1639G>T (GNE) NP_005467.1:p.Gly547Cys
XM_005251334.3:c.1579G>T (GNE) XP_005251391.1:p.Gly527Cys
NM_001190383.2:c.1417G>T (GNE) NP_001177312.1:p.Gly473Cys
NM_001190384.2:c.1309G>T (GNE) NP_001177313.1:p.Gly437Cys
NM_005476.6:c.1639G>T (GNE) NP_005467.1:p.Gly547Cys
XM_005251334.4:c.1579G>T (GNE) XP_005251391.1:p.Gly527Cys
XM_017014167.1:c.1639G>T (GNE) XP_016869656.1:p.Gly547Cys
XM_017014168.1:c.1486G>T (GNE) XP_016869657.1:p.Gly496Cys
NM_001128227.3:c.1732G>T (GNE) MANE Plus Clinical NP_001121699.1:p.Gly578Cys
NM_001190383.3:c.1417G>T (GNE) NP_001177312.1:p.Gly473Cys
NM_001190384.3:c.1309G>T (GNE) NP_001177313.1:p.Gly437Cys
NM_001190388.2:c.1462G>T (GNE) NP_001177317.2:p.Gly488Cys
NM_001374797.1:c.1486G>T (GNE) NP_001361726.1:p.Gly496Cys
NM_001374798.1:c.1462G>T (GNE) NP_001361727.1:p.Gly488Cys
NM_005476.7:c.1639G>T (GNE) MANE Select NP_005467.1:p.Gly547Cys