Canonical Allele Identifier: CA5056478

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 627242
• ClinVar RCV Id: RCV000852033
• dbSNP Id: rs774867424
• ExAC: 9:36222950 A / G
• gnomAD v2: 9-36222950-A-G
• MyVariant Identifiers: chr9:g.36222950A>G (hg19) ; chr9:g.36222953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222953A>G , CM000671.2:g.36222953A>G	GRCh38
NC_000009.11:g.36222950A>G , CM000671.1:g.36222950A>G	GRCh37
NC_000009.10:g.36212950A>G	NCBI36
NG_008246.1:g.59092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1550T>C (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu517Pro
ENST00000543356.7:c.1280T>C (GNE)	ENSP00000437765.3:p.Leu427Pro
ENST00000642385.2:c.1457T>C (GNE) MANE Select	ENSP00000494141.2:p.Leu486Pro
ENST00000377902.5:c.1457T>C (GNE)	ENSP00000367134.4:p.Leu486Pro
ENST00000396594.7:c.1550T>C (GNE)	ENSP00000379839.3:p.Leu517Pro
ENST00000447283.6:c.1411+420T>C (GNE)	ENSP00000414760.2:n.1411+420T>C
ENST00000464497.5:c.485+18774A>G (CLTA)	ENSP00000419158.1:n.485+18774A>G
ENST00000539208.5:c.1127T>C (GNE)	ENSP00000445117.1:p.Leu376Pro
ENST00000539815.5:c.1457T>C (GNE)	ENSP00000439155.1:p.Leu486Pro
ENST00000543356.6:c.1442T>C (GNE)	ENSP00000437765.2:p.Leu481Pro
NM_001128227.2:c.1550T>C (GNE)	NP_001121699.1:p.Leu517Pro
NM_001190383.1:c.1411+420T>C (GNE)	NP_001177312.1:n.1411+420T>C
NM_001190384.1:c.1127T>C (GNE)	NP_001177313.1:p.Leu376Pro
NM_001190388.1:c.1442T>C (GNE)	NP_001177317.1:p.Leu481Pro
NM_005476.5:c.1457T>C (GNE)	NP_005467.1:p.Leu486Pro
XM_005251334.3:c.1397T>C (GNE)	XP_005251391.1:p.Leu466Pro
NM_001190383.2:c.1411+420T>C (GNE)	NP_001177312.1:n.1411+420T>C
NM_001190384.2:c.1127T>C (GNE)	NP_001177313.1:p.Leu376Pro
NM_005476.6:c.1457T>C (GNE)	NP_005467.1:p.Leu486Pro
XM_005251334.4:c.1397T>C (GNE)	XP_005251391.1:p.Leu466Pro
XM_017014167.1:c.1457T>C (GNE)	XP_016869656.1:p.Leu486Pro
XM_017014168.1:c.1304T>C (GNE)	XP_016869657.1:p.Leu435Pro
NM_001128227.3:c.1550T>C (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu517Pro
NM_001190383.3:c.1411+420T>C (GNE)	NP_001177312.1:n.1411+420T>C
NM_001190384.3:c.1127T>C (GNE)	NP_001177313.1:p.Leu376Pro
NM_001190388.2:c.1280T>C (GNE)	NP_001177317.2:p.Leu427Pro
NM_001374797.1:c.1304T>C (GNE)	NP_001361726.1:p.Leu435Pro
NM_001374798.1:c.1280T>C (GNE)	NP_001361727.1:p.Leu427Pro
NM_005476.7:c.1457T>C (GNE) MANE Select	NP_005467.1:p.Leu486Pro