Canonical Allele Identifier: CA373426404

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1702701
• ClinVar RCV Id: RCV002279019
• dbSNP Id: rs2133021459
• MyVariant Identifiers: chr9:g.36222869C>A (hg19) ; chr9:g.36222872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222872C>A , CM000671.2:g.36222872C>A	GRCh38
NC_000009.11:g.36222869C>A , CM000671.1:g.36222869C>A	GRCh37
NC_000009.10:g.36212869C>A	NCBI36
NG_008246.1:g.59173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1631G>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Trp544Leu
ENST00000543356.7:c.1361G>T (GNE)	ENSP00000437765.3:p.Trp454Leu
ENST00000642385.2:c.1538G>T (GNE) MANE Select	ENSP00000494141.2:p.Trp513Leu
ENST00000377902.5:c.1538G>T (GNE)	ENSP00000367134.4:p.Trp513Leu
ENST00000396594.7:c.1631G>T (GNE)	ENSP00000379839.3:p.Trp544Leu
ENST00000447283.6:c.1411+501G>T (GNE)	ENSP00000414760.2:n.1411+501G>T
ENST00000464497.5:c.485+18693C>A (CLTA)	ENSP00000419158.1:n.485+18693C>A
ENST00000539208.5:c.1208G>T (GNE)	ENSP00000445117.1:p.Trp403Leu
ENST00000539815.5:c.1538G>T (GNE)	ENSP00000439155.1:p.Trp513Leu
ENST00000543356.6:c.1523G>T (GNE)	ENSP00000437765.2:p.Trp508Leu
NM_001128227.2:c.1631G>T (GNE)	NP_001121699.1:p.Trp544Leu
NM_001190383.1:c.1411+501G>T (GNE)	NP_001177312.1:n.1411+501G>T
NM_001190384.1:c.1208G>T (GNE)	NP_001177313.1:p.Trp403Leu
NM_001190388.1:c.1523G>T (GNE)	NP_001177317.1:p.Trp508Leu
NM_005476.5:c.1538G>T (GNE)	NP_005467.1:p.Trp513Leu
XM_005251334.3:c.1478G>T (GNE)	XP_005251391.1:p.Trp493Leu
NM_001190383.2:c.1411+501G>T (GNE)	NP_001177312.1:n.1411+501G>T
NM_001190384.2:c.1208G>T (GNE)	NP_001177313.1:p.Trp403Leu
NM_005476.6:c.1538G>T (GNE)	NP_005467.1:p.Trp513Leu
XM_005251334.4:c.1478G>T (GNE)	XP_005251391.1:p.Trp493Leu
XM_017014167.1:c.1538G>T (GNE)	XP_016869656.1:p.Trp513Leu
XM_017014168.1:c.1385G>T (GNE)	XP_016869657.1:p.Trp462Leu
NM_001128227.3:c.1631G>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Trp544Leu
NM_001190383.3:c.1411+501G>T (GNE)	NP_001177312.1:n.1411+501G>T
NM_001190384.3:c.1208G>T (GNE)	NP_001177313.1:p.Trp403Leu
NM_001190388.2:c.1361G>T (GNE)	NP_001177317.2:p.Trp454Leu
NM_001374797.1:c.1385G>T (GNE)	NP_001361726.1:p.Trp462Leu
NM_001374798.1:c.1361G>T (GNE)	NP_001361727.1:p.Trp454Leu
NM_005476.7:c.1538G>T (GNE) MANE Select	NP_005467.1:p.Trp513Leu