Canonical Allele Identifier: CA5056479

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 451929
• ClinVar RCV Id: RCV000531870 ; RCV000727190 ; RCV001274363
• dbSNP Id: rs138357804
• ExAC: 9:36222965 C / T
• gnomAD v2: 9-36222965-C-T
• gnomAD v3: 9-36222968-C-T
• gnomAD v4: 9-36222968-C-T
• MyVariant Identifiers: chr9:g.36222965C>T (hg19) ; chr9:g.36222968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222968C>T , CM000671.2:g.36222968C>T	GRCh38
NC_000009.11:g.36222965C>T , CM000671.1:g.36222965C>T	GRCh37
NC_000009.10:g.36212965C>T	NCBI36
NG_008246.1:g.59077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1535G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Arg512Gln
ENST00000543356.7:c.1265G>A (GNE)	ENSP00000437765.3:p.Arg422Gln
ENST00000642385.2:c.1442G>A (GNE) MANE Select	ENSP00000494141.2:p.Arg481Gln
ENST00000377902.5:c.1442G>A (GNE)	ENSP00000367134.4:p.Arg481Gln
ENST00000396594.7:c.1535G>A (GNE)	ENSP00000379839.3:p.Arg512Gln
ENST00000447283.6:c.1411+405G>A (GNE)	ENSP00000414760.2:n.1411+405G>A
ENST00000464497.5:c.485+18789C>T (CLTA)	ENSP00000419158.1:n.485+18789C>T
ENST00000539208.5:c.1112G>A (GNE)	ENSP00000445117.1:p.Arg371Gln
ENST00000539815.5:c.1442G>A (GNE)	ENSP00000439155.1:p.Arg481Gln
ENST00000543356.6:c.1427G>A (GNE)	ENSP00000437765.2:p.Arg476Gln
NM_001128227.2:c.1535G>A (GNE)	NP_001121699.1:p.Arg512Gln
NM_001190383.1:c.1411+405G>A (GNE)	NP_001177312.1:n.1411+405G>A
NM_001190384.1:c.1112G>A (GNE)	NP_001177313.1:p.Arg371Gln
NM_001190388.1:c.1427G>A (GNE)	NP_001177317.1:p.Arg476Gln
NM_005476.5:c.1442G>A (GNE)	NP_005467.1:p.Arg481Gln
XM_005251334.3:c.1382G>A (GNE)	XP_005251391.1:p.Arg461Gln
NM_001190383.2:c.1411+405G>A (GNE)	NP_001177312.1:n.1411+405G>A
NM_001190384.2:c.1112G>A (GNE)	NP_001177313.1:p.Arg371Gln
NM_005476.6:c.1442G>A (GNE)	NP_005467.1:p.Arg481Gln
XM_005251334.4:c.1382G>A (GNE)	XP_005251391.1:p.Arg461Gln
XM_017014167.1:c.1442G>A (GNE)	XP_016869656.1:p.Arg481Gln
XM_017014168.1:c.1289G>A (GNE)	XP_016869657.1:p.Arg430Gln
NM_001128227.3:c.1535G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Arg512Gln
NM_001190383.3:c.1411+405G>A (GNE)	NP_001177312.1:n.1411+405G>A
NM_001190384.3:c.1112G>A (GNE)	NP_001177313.1:p.Arg371Gln
NM_001190388.2:c.1265G>A (GNE)	NP_001177317.2:p.Arg422Gln
NM_001374797.1:c.1289G>A (GNE)	NP_001361726.1:p.Arg430Gln
NM_001374798.1:c.1265G>A (GNE)	NP_001361727.1:p.Arg422Gln
NM_005476.7:c.1442G>A (GNE) MANE Select	NP_005467.1:p.Arg481Gln