Canonical Allele Identifier: CA273055

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 162151
• ClinVar RCV Id: RCV000149557 ; RCV003764899
• dbSNP Id: rs724159957
• COSMIC: COSM1462364 ; COSM1462365 ; COSM1462366
• MyVariant Identifiers: chr9:g.36236887C>T (hg19) ; chr9:g.36236890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36236890C>T , CM000671.2:g.36236890C>T	GRCh38
NC_000009.11:g.36236887C>T , CM000671.1:g.36236887C>T	GRCh37
NC_000009.10:g.36226887C>T	NCBI36
NG_008246.1:g.45155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.804G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu268=
ENST00000543356.7:c.534G>A (GNE)	ENSP00000437765.3:p.Leu178=
ENST00000642385.2:c.711G>A (GNE) MANE Select	ENSP00000494141.2:p.Leu237=
ENST00000377902.5:c.711G>A (GNE)	ENSP00000367134.4:p.Leu237=
ENST00000396594.7:c.804G>A (GNE)	ENSP00000379839.3:p.Leu268=
ENST00000447283.6:c.711G>A (GNE)	ENSP00000414760.2:p.Leu237=
ENST00000464497.5:c.486-26308C>T (CLTA)	ENSP00000419158.1:n.486-26308C>T
ENST00000539208.5:c.440-2758G>A (GNE)	ENSP00000445117.1:n.440-2758G>A
ENST00000539815.5:c.711G>A (GNE)	ENSP00000439155.1:p.Leu237=
ENST00000543356.6:c.696G>A (GNE)	ENSP00000437765.2:p.Leu232=
NM_001128227.2:c.804G>A (GNE)	NP_001121699.1:p.Leu268=
NM_001190383.1:c.711G>A (GNE)	NP_001177312.1:p.Leu237=
NM_001190384.1:c.440-2758G>A (GNE)	NP_001177313.1:n.440-2758G>A
NM_001190388.1:c.696G>A (GNE)	NP_001177317.1:p.Leu232=
NM_005476.5:c.711G>A (GNE)	NP_005467.1:p.Leu237=
XM_005251334.3:c.710-2758G>A (GNE)	XP_005251391.1:n.710-2758G>A
NM_001190383.2:c.711G>A (GNE)	NP_001177312.1:p.Leu237=
NM_001190384.2:c.440-2758G>A (GNE)	NP_001177313.1:n.440-2758G>A
NM_005476.6:c.711G>A (GNE)	NP_005467.1:p.Leu237=
XM_005251334.4:c.710-2758G>A (GNE)	XP_005251391.1:n.710-2758G>A
XM_017014167.1:c.711G>A (GNE)	XP_016869656.1:p.Leu237=
XM_017014168.1:c.617-2758G>A (GNE)	XP_016869657.1:n.617-2758G>A
NM_001128227.3:c.804G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu268=
NM_001190383.3:c.711G>A (GNE)	NP_001177312.1:p.Leu237=
NM_001190384.3:c.440-2758G>A (GNE)	NP_001177313.1:n.440-2758G>A
NM_001190388.2:c.534G>A (GNE)	NP_001177317.2:p.Leu178=
NM_001374797.1:c.617-2758G>A (GNE)	NP_001361726.1:n.617-2758G>A
NM_001374798.1:c.534G>A (GNE)	NP_001361727.1:p.Leu178=
NM_005476.7:c.711G>A (GNE) MANE Select	NP_005467.1:p.Leu237=