Canonical Allele Identifier: CA340503

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 6022
• ClinVar RCV Id: RCV000006393 ; RCV001241785
• dbSNP Id: rs121908622
• MyVariant Identifiers: chr9:g.36234102C>T (hg19) ; chr9:g.36234105C>T (hg38)
• PubMed: PMID:2808337 ; PMID:10330343 ; PMID:11326336 ; PMID:20301343

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36234105C>T , CM000671.2:g.36234105C>T	GRCh38
NC_000009.11:g.36234102C>T , CM000671.1:g.36234102C>T	GRCh37
NC_000009.10:g.36224102C>T	NCBI36
NG_008246.1:g.47940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.890G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Arg297Gln
ENST00000543356.7:c.620G>A (GNE)	ENSP00000437765.3:p.Arg207Gln
ENST00000642385.2:c.797G>A (GNE) MANE Select	ENSP00000494141.2:p.Arg266Gln
ENST00000377902.5:c.797G>A (GNE)	ENSP00000367134.4:p.Arg266Gln
ENST00000396594.7:c.890G>A (GNE)	ENSP00000379839.3:p.Arg297Gln
ENST00000447283.6:c.797G>A (GNE)	ENSP00000414760.2:p.Arg266Gln
ENST00000464497.5:c.486-29093C>T (CLTA)	ENSP00000419158.1:n.486-29093C>T
ENST00000539208.5:c.467G>A (GNE)	ENSP00000445117.1:p.Arg156Gln
ENST00000539815.5:c.797G>A (GNE)	ENSP00000439155.1:p.Arg266Gln
ENST00000543356.6:c.782G>A (GNE)	ENSP00000437765.2:p.Arg261Gln
NM_001128227.2:c.890G>A (GNE)	NP_001121699.1:p.Arg297Gln
NM_001190383.1:c.797G>A (GNE)	NP_001177312.1:p.Arg266Gln
NM_001190384.1:c.467G>A (GNE)	NP_001177313.1:p.Arg156Gln
NM_001190388.1:c.782G>A (GNE)	NP_001177317.1:p.Arg261Gln
NM_005476.5:c.797G>A (GNE)	NP_005467.1:p.Arg266Gln
XM_005251334.3:c.737G>A (GNE)	XP_005251391.1:p.Arg246Gln
NM_001190383.2:c.797G>A (GNE)	NP_001177312.1:p.Arg266Gln
NM_001190384.2:c.467G>A (GNE)	NP_001177313.1:p.Arg156Gln
NM_005476.6:c.797G>A (GNE)	NP_005467.1:p.Arg266Gln
XM_005251334.4:c.737G>A (GNE)	XP_005251391.1:p.Arg246Gln
XM_017014167.1:c.797G>A (GNE)	XP_016869656.1:p.Arg266Gln
XM_017014168.1:c.644G>A (GNE)	XP_016869657.1:p.Arg215Gln
NM_001128227.3:c.890G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Arg297Gln
NM_001190383.3:c.797G>A (GNE)	NP_001177312.1:p.Arg266Gln
NM_001190384.3:c.467G>A (GNE)	NP_001177313.1:p.Arg156Gln
NM_001190388.2:c.620G>A (GNE)	NP_001177317.2:p.Arg207Gln
NM_001374797.1:c.644G>A (GNE)	NP_001361726.1:p.Arg215Gln
NM_001374798.1:c.620G>A (GNE)	NP_001361727.1:p.Arg207Gln
NM_005476.7:c.797G>A (GNE) MANE Select	NP_005467.1:p.Arg266Gln