Canonical Allele Identifier: CA464494595

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2939337
• ClinVar RCV Id: RCV003792063
• gnomAD v4: 9-36217416-C-A
• MyVariant Identifiers: chr9:g.36217413C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36217416C>A , CM000671.2:g.36217416C>A	GRCh38
NC_000009.11:g.36217413C>A , CM000671.1:g.36217413C>A	GRCh37
NC_000009.10:g.36207413C>A	NCBI36
NG_008246.1:g.64629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.2211G>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu737=
ENST00000543356.7:c.1941G>T (GNE)	ENSP00000437765.3:p.Leu647=
ENST00000642385.2:c.2118G>T (GNE) MANE Select	ENSP00000494141.2:p.Leu706=
ENST00000377902.5:c.2118G>T (GNE)	ENSP00000367134.4:p.Leu706=
ENST00000396594.7:c.2211G>T (GNE)	ENSP00000379839.3:p.Leu737=
ENST00000447283.6:c.1896G>T (GNE)	ENSP00000414760.2:p.Leu632=
ENST00000464497.5:c.485+13237C>A (CLTA)	ENSP00000419158.1:n.485+13237C>A
ENST00000539208.5:c.1788G>T (GNE)	ENSP00000445117.1:p.Leu596=
ENST00000539815.5:c.2118G>T (GNE)	ENSP00000439155.1:p.Leu706=
ENST00000543356.6:c.2103G>T (GNE)	ENSP00000437765.2:p.Leu701=
NM_001128227.2:c.2211G>T (GNE)	NP_001121699.1:p.Leu737=
NM_001190383.1:c.1896G>T (GNE)	NP_001177312.1:p.Leu632=
NM_001190384.1:c.1788G>T (GNE)	NP_001177313.1:p.Leu596=
NM_001190388.1:c.2103G>T (GNE)	NP_001177317.1:p.Leu701=
NM_005476.5:c.2118G>T (GNE)	NP_005467.1:p.Leu706=
XM_005251334.3:c.2058G>T (GNE)	XP_005251391.1:p.Leu686=
NM_001190383.2:c.1896G>T (GNE)	NP_001177312.1:p.Leu632=
NM_001190384.2:c.1788G>T (GNE)	NP_001177313.1:p.Leu596=
NM_005476.6:c.2118G>T (GNE)	NP_005467.1:p.Leu706=
XM_005251334.4:c.2058G>T (GNE)	XP_005251391.1:p.Leu686=
XM_017014167.1:c.2118G>T (GNE)	XP_016869656.1:p.Leu706=
XM_017014168.1:c.1965G>T (GNE)	XP_016869657.1:p.Leu655=
NM_001128227.3:c.2211G>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu737=
NM_001190383.3:c.1896G>T (GNE)	NP_001177312.1:p.Leu632=
NM_001190384.3:c.1788G>T (GNE)	NP_001177313.1:p.Leu596=
NM_001190388.2:c.1941G>T (GNE)	NP_001177317.2:p.Leu647=
NM_001374797.1:c.1965G>T (GNE)	NP_001361726.1:p.Leu655=
NM_001374798.1:c.1941G>T (GNE)	NP_001361727.1:p.Leu647=
NM_005476.7:c.2118G>T (GNE) MANE Select	NP_005467.1:p.Leu706=