Canonical Allele Identifier: CA373427278

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1402071
• ClinVar RCV Id: RCV001913339
• dbSNP Id: rs2133024204
• gnomAD v4: 9-36223415-C-T
• MyVariant Identifiers: chr9:g.36223412C>T (hg19) ; chr9:g.36223415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223415C>T , CM000671.2:g.36223415C>T	GRCh38
NC_000009.11:g.36223412C>T , CM000671.1:g.36223412C>T	GRCh37
NC_000009.10:g.36213412C>T	NCBI36
NG_008246.1:g.58630G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1462G>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Ala488Thr
ENST00000543356.7:c.1192G>A (GNE)	ENSP00000437765.3:p.Ala398Thr
ENST00000642385.2:c.1369G>A (GNE) MANE Select	ENSP00000494141.2:p.Ala457Thr
ENST00000377902.5:c.1369G>A (GNE)	ENSP00000367134.4:p.Ala457Thr
ENST00000396594.7:c.1462G>A (GNE)	ENSP00000379839.3:p.Ala488Thr
ENST00000447283.6:c.1369G>A (GNE)	ENSP00000414760.2:p.Ala457Thr
ENST00000464497.5:c.485+19236C>T (CLTA)	ENSP00000419158.1:n.485+19236C>T
ENST00000539208.5:c.1039G>A (GNE)	ENSP00000445117.1:p.Ala347Thr
ENST00000539815.5:c.1369G>A (GNE)	ENSP00000439155.1:p.Ala457Thr
ENST00000543356.6:c.1354G>A (GNE)	ENSP00000437765.2:p.Ala452Thr
NM_001128227.2:c.1462G>A (GNE)	NP_001121699.1:p.Ala488Thr
NM_001190383.1:c.1369G>A (GNE)	NP_001177312.1:p.Ala457Thr
NM_001190384.1:c.1039G>A (GNE)	NP_001177313.1:p.Ala347Thr
NM_001190388.1:c.1354G>A (GNE)	NP_001177317.1:p.Ala452Thr
NM_005476.5:c.1369G>A (GNE)	NP_005467.1:p.Ala457Thr
XM_005251334.3:c.1309G>A (GNE)	XP_005251391.1:p.Ala437Thr
NM_001190383.2:c.1369G>A (GNE)	NP_001177312.1:p.Ala457Thr
NM_001190384.2:c.1039G>A (GNE)	NP_001177313.1:p.Ala347Thr
NM_005476.6:c.1369G>A (GNE)	NP_005467.1:p.Ala457Thr
XM_005251334.4:c.1309G>A (GNE)	XP_005251391.1:p.Ala437Thr
XM_017014167.1:c.1369G>A (GNE)	XP_016869656.1:p.Ala457Thr
XM_017014168.1:c.1216G>A (GNE)	XP_016869657.1:p.Ala406Thr
NM_001128227.3:c.1462G>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Ala488Thr
NM_001190383.3:c.1369G>A (GNE)	NP_001177312.1:p.Ala457Thr
NM_001190384.3:c.1039G>A (GNE)	NP_001177313.1:p.Ala347Thr
NM_001190388.2:c.1192G>A (GNE)	NP_001177317.2:p.Ala398Thr
NM_001374797.1:c.1216G>A (GNE)	NP_001361726.1:p.Ala406Thr
NM_001374798.1:c.1192G>A (GNE)	NP_001361727.1:p.Ala398Thr
NM_005476.7:c.1369G>A (GNE) MANE Select	NP_005467.1:p.Ala457Thr