Canonical Allele Identifier: CA5056422

Gene: GNE CLTA

Linked Data

• dbSNP Id: rs547919665
• ExAC: 9:36219835 C / T
• gnomAD v2: 9-36219835-C-T
• gnomAD v3: 9-36219838-C-T
• gnomAD v4: 9-36219838-C-T
• MyVariant Identifiers: chr9:g.36219835C>T (hg19) ; chr9:g.36219838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219838C>T , CM000671.2:g.36219838C>T	GRCh38
NC_000009.11:g.36219835C>T , CM000671.1:g.36219835C>T	GRCh37
NC_000009.10:g.36209835C>T	NCBI36
NG_008246.1:g.62207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1909G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Glu637Lys
ENST00000543356.7:c.1639G>A (GNE)	ENSP00000437765.3:p.Glu547Lys
ENST00000642385.2:c.1816G>A (GNE) MANE Select	ENSP00000494141.2:p.Glu606Lys
ENST00000377902.5:c.1816G>A (GNE)	ENSP00000367134.4:p.Glu606Lys
ENST00000396594.7:c.1909G>A (GNE)	ENSP00000379839.3:p.Glu637Lys
ENST00000447283.6:c.1594G>A (GNE)	ENSP00000414760.2:p.Glu532Lys
ENST00000464497.5:c.485+15659C>T (CLTA)	ENSP00000419158.1:n.485+15659C>T
ENST00000539208.5:c.1486G>A (GNE)	ENSP00000445117.1:p.Glu496Lys
ENST00000539815.5:c.1816G>A (GNE)	ENSP00000439155.1:p.Glu606Lys
ENST00000543356.6:c.1801G>A (GNE)	ENSP00000437765.2:p.Glu601Lys
NM_001128227.2:c.1909G>A (GNE)	NP_001121699.1:p.Glu637Lys
NM_001190383.1:c.1594G>A (GNE)	NP_001177312.1:p.Glu532Lys
NM_001190384.1:c.1486G>A (GNE)	NP_001177313.1:p.Glu496Lys
NM_001190388.1:c.1801G>A (GNE)	NP_001177317.1:p.Glu601Lys
NM_005476.5:c.1816G>A (GNE)	NP_005467.1:p.Glu606Lys
XM_005251334.3:c.1756G>A (GNE)	XP_005251391.1:p.Glu586Lys
NM_001190383.2:c.1594G>A (GNE)	NP_001177312.1:p.Glu532Lys
NM_001190384.2:c.1486G>A (GNE)	NP_001177313.1:p.Glu496Lys
NM_005476.6:c.1816G>A (GNE)	NP_005467.1:p.Glu606Lys
XM_005251334.4:c.1756G>A (GNE)	XP_005251391.1:p.Glu586Lys
XM_017014167.1:c.1816G>A (GNE)	XP_016869656.1:p.Glu606Lys
XM_017014168.1:c.1663G>A (GNE)	XP_016869657.1:p.Glu555Lys
NM_001128227.3:c.1909G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Glu637Lys
NM_001190383.3:c.1594G>A (GNE)	NP_001177312.1:p.Glu532Lys
NM_001190384.3:c.1486G>A (GNE)	NP_001177313.1:p.Glu496Lys
NM_001190388.2:c.1639G>A (GNE)	NP_001177317.2:p.Glu547Lys
NM_001374797.1:c.1663G>A (GNE)	NP_001361726.1:p.Glu555Lys
NM_001374798.1:c.1639G>A (GNE)	NP_001361727.1:p.Glu547Lys
NM_005476.7:c.1816G>A (GNE) MANE Select	NP_005467.1:p.Glu606Lys