Canonical Allele Identifier: CA373415630

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 499107
• ClinVar RCV Id: RCV000596372 ; RCV003465342
• dbSNP Id: rs1554661582
• gnomAD v4: 9-36236986-T-C
• MyVariant Identifiers: chr9:g.36236983T>C (hg19) ; chr9:g.36236986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36236986T>C , CM000671.2:g.36236986T>C	GRCh38
NC_000009.11:g.36236983T>C , CM000671.1:g.36236983T>C	GRCh37
NC_000009.10:g.36226983T>C	NCBI36
NG_008246.1:g.45059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.710-2A>G (GNE) MANE Plus Clinical	ENSP00000379839.3:n.710-2A>G
ENST00000543356.7:c.440-2A>G (GNE)	ENSP00000437765.3:n.440-2A>G
ENST00000642385.2:c.617-2A>G (GNE) MANE Select	ENSP00000494141.2:n.617-2A>G
ENST00000377902.5:c.617-2A>G (GNE)	ENSP00000367134.4:n.617-2A>G
ENST00000396594.7:c.710-2A>G (GNE)	ENSP00000379839.3:n.710-2A>G
ENST00000447283.6:c.617-2A>G (GNE)	ENSP00000414760.2:n.617-2A>G
ENST00000464497.5:c.486-26212T>C (CLTA)	ENSP00000419158.1:n.486-26212T>C
ENST00000539208.5:c.440-2854A>G (GNE)	ENSP00000445117.1:n.440-2854A>G
ENST00000539815.5:c.617-2A>G (GNE)	ENSP00000439155.1:n.617-2A>G
ENST00000543356.6:c.602-2A>G (GNE)	ENSP00000437765.2:n.602-2A>G
NM_001128227.2:c.710-2A>G (GNE)	NP_001121699.1:n.710-2A>G
NM_001190383.1:c.617-2A>G (GNE)	NP_001177312.1:n.617-2A>G
NM_001190384.1:c.440-2854A>G (GNE)	NP_001177313.1:n.440-2854A>G
NM_001190388.1:c.602-2A>G (GNE)	NP_001177317.1:n.602-2A>G
NM_005476.5:c.617-2A>G (GNE)	NP_005467.1:n.617-2A>G
XM_005251334.3:c.710-2854A>G (GNE)	XP_005251391.1:n.710-2854A>G
NM_001190383.2:c.617-2A>G (GNE)	NP_001177312.1:n.617-2A>G
NM_001190384.2:c.440-2854A>G (GNE)	NP_001177313.1:n.440-2854A>G
NM_005476.6:c.617-2A>G (GNE)	NP_005467.1:n.617-2A>G
XM_005251334.4:c.710-2854A>G (GNE)	XP_005251391.1:n.710-2854A>G
XM_017014167.1:c.617-2A>G (GNE)	XP_016869656.1:n.617-2A>G
XM_017014168.1:c.617-2854A>G (GNE)	XP_016869657.1:n.617-2854A>G
NM_001128227.3:c.710-2A>G (GNE) MANE Plus Clinical	NP_001121699.1:n.710-2A>G
NM_001190383.3:c.617-2A>G (GNE)	NP_001177312.1:n.617-2A>G
NM_001190384.3:c.440-2854A>G (GNE)	NP_001177313.1:n.440-2854A>G
NM_001190388.2:c.440-2A>G (GNE)	NP_001177317.2:n.440-2A>G
NM_001374797.1:c.617-2854A>G (GNE)	NP_001361726.1:n.617-2854A>G
NM_001374798.1:c.440-2A>G (GNE)	NP_001361727.1:n.440-2A>G
NM_005476.7:c.617-2A>G (GNE) MANE Select	NP_005467.1:n.617-2A>G