Canonical Allele Identifier: CA464494960

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2145543
• ClinVar RCV Id: RCV003065085
• dbSNP Id: rs1828510333
• gnomAD v4: 9-36219899-C-G
• MyVariant Identifiers: chr9:g.36219896C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219899C>G , CM000671.2:g.36219899C>G	GRCh38
NC_000009.11:g.36219896C>G , CM000671.1:g.36219896C>G	GRCh37
NC_000009.10:g.36209896C>G	NCBI36
NG_008246.1:g.62146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1848G>C (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Gly616=
ENST00000543356.7:c.1578G>C (GNE)	ENSP00000437765.3:p.Gly526=
ENST00000642385.2:c.1755G>C (GNE) MANE Select	ENSP00000494141.2:p.Gly585=
ENST00000377902.5:c.1755G>C (GNE)	ENSP00000367134.4:p.Gly585=
ENST00000396594.7:c.1848G>C (GNE)	ENSP00000379839.3:p.Gly616=
ENST00000447283.6:c.1533G>C (GNE)	ENSP00000414760.2:p.Gly511=
ENST00000464497.5:c.485+15720C>G (CLTA)	ENSP00000419158.1:n.485+15720C>G
ENST00000539208.5:c.1425G>C (GNE)	ENSP00000445117.1:p.Gly475=
ENST00000539815.5:c.1755G>C (GNE)	ENSP00000439155.1:p.Gly585=
ENST00000543356.6:c.1740G>C (GNE)	ENSP00000437765.2:p.Gly580=
NM_001128227.2:c.1848G>C (GNE)	NP_001121699.1:p.Gly616=
NM_001190383.1:c.1533G>C (GNE)	NP_001177312.1:p.Gly511=
NM_001190384.1:c.1425G>C (GNE)	NP_001177313.1:p.Gly475=
NM_001190388.1:c.1740G>C (GNE)	NP_001177317.1:p.Gly580=
NM_005476.5:c.1755G>C (GNE)	NP_005467.1:p.Gly585=
XM_005251334.3:c.1695G>C (GNE)	XP_005251391.1:p.Gly565=
NM_001190383.2:c.1533G>C (GNE)	NP_001177312.1:p.Gly511=
NM_001190384.2:c.1425G>C (GNE)	NP_001177313.1:p.Gly475=
NM_005476.6:c.1755G>C (GNE)	NP_005467.1:p.Gly585=
XM_005251334.4:c.1695G>C (GNE)	XP_005251391.1:p.Gly565=
XM_017014167.1:c.1755G>C (GNE)	XP_016869656.1:p.Gly585=
XM_017014168.1:c.1602G>C (GNE)	XP_016869657.1:p.Gly534=
NM_001128227.3:c.1848G>C (GNE) MANE Plus Clinical	NP_001121699.1:p.Gly616=
NM_001190383.3:c.1533G>C (GNE)	NP_001177312.1:p.Gly511=
NM_001190384.3:c.1425G>C (GNE)	NP_001177313.1:p.Gly475=
NM_001190388.2:c.1578G>C (GNE)	NP_001177317.2:p.Gly526=
NM_001374797.1:c.1602G>C (GNE)	NP_001361726.1:p.Gly534=
NM_001374798.1:c.1578G>C (GNE)	NP_001361727.1:p.Gly526=
NM_005476.7:c.1755G>C (GNE) MANE Select	NP_005467.1:p.Gly585=