Canonical Allele Identifier: CA253699

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 6030
• ClinVar RCV Id: RCV000202425 ; RCV000725734 ; RCV001051696
• dbSNP Id: rs121908629
• gnomAD v2: 9-36236861-C-T
• gnomAD v3: 9-36236864-C-T
• gnomAD v4: 9-36236864-C-T
• MyVariant Identifiers: chr9:g.36236861C>T (hg19) ; chr9:g.36236864C>T (hg38)
• PubMed: PMID:11528398 ; PMID:15146476 ; PMID:17098358 ; PMID:17261181 ; PMID:19917666 ; PMID:20059379 ; PMID:23891399 ; PMID:24027297 ; PMID:24695763 ; PMID:24796702 ; PMID:25966635

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36236864C>T , CM000671.2:g.36236864C>T	GRCh38
NC_000009.11:g.36236861C>T , CM000671.1:g.36236861C>T	GRCh37
NC_000009.10:g.36226861C>T	NCBI36
NG_008246.1:g.45181G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.830G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Arg277Gln
ENST00000543356.7:c.560G>A (GNE)	ENSP00000437765.3:p.Arg187Gln
ENST00000642385.2:c.737G>A (GNE) MANE Select	ENSP00000494141.2:p.Arg246Gln
ENST00000377902.5:c.737G>A (GNE)	ENSP00000367134.4:p.Arg246Gln
ENST00000396594.7:c.830G>A (GNE)	ENSP00000379839.3:p.Arg277Gln
ENST00000447283.6:c.737G>A (GNE)	ENSP00000414760.2:p.Arg246Gln
ENST00000464497.5:c.486-26334C>T (CLTA)	ENSP00000419158.1:n.486-26334C>T
ENST00000539208.5:c.440-2732G>A (GNE)	ENSP00000445117.1:n.440-2732G>A
ENST00000539815.5:c.737G>A (GNE)	ENSP00000439155.1:p.Arg246Gln
ENST00000543356.6:c.722G>A (GNE)	ENSP00000437765.2:p.Arg241Gln
NM_001128227.2:c.830G>A (GNE)	NP_001121699.1:p.Arg277Gln
NM_001190383.1:c.737G>A (GNE)	NP_001177312.1:p.Arg246Gln
NM_001190384.1:c.440-2732G>A (GNE)	NP_001177313.1:n.440-2732G>A
NM_001190388.1:c.722G>A (GNE)	NP_001177317.1:p.Arg241Gln
NM_005476.5:c.737G>A (GNE)	NP_005467.1:p.Arg246Gln
XM_005251334.3:c.710-2732G>A (GNE)	XP_005251391.1:n.710-2732G>A
NM_001190383.2:c.737G>A (GNE)	NP_001177312.1:p.Arg246Gln
NM_001190384.2:c.440-2732G>A (GNE)	NP_001177313.1:n.440-2732G>A
NM_005476.6:c.737G>A (GNE)	NP_005467.1:p.Arg246Gln
XM_005251334.4:c.710-2732G>A (GNE)	XP_005251391.1:n.710-2732G>A
XM_017014167.1:c.737G>A (GNE)	XP_016869656.1:p.Arg246Gln
XM_017014168.1:c.617-2732G>A (GNE)	XP_016869657.1:n.617-2732G>A
NM_001128227.3:c.830G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Arg277Gln
NM_001190383.3:c.737G>A (GNE)	NP_001177312.1:p.Arg246Gln
NM_001190384.3:c.440-2732G>A (GNE)	NP_001177313.1:n.440-2732G>A
NM_001190388.2:c.560G>A (GNE)	NP_001177317.2:p.Arg187Gln
NM_001374797.1:c.617-2732G>A (GNE)	NP_001361726.1:n.617-2732G>A
NM_001374798.1:c.560G>A (GNE)	NP_001361727.1:p.Arg187Gln
NM_005476.7:c.737G>A (GNE) MANE Select	NP_005467.1:p.Arg246Gln