Canonical Allele Identifier: CA373426773

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2941698
• ClinVar RCV Id: RCV003802720
• dbSNP Id: rs1828671975
• gnomAD v4: 9-36222950-T-C
• MyVariant Identifiers: chr9:g.36222947T>C (hg19) ; chr9:g.36222950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222950T>C , CM000671.2:g.36222950T>C	GRCh38
NC_000009.11:g.36222947T>C , CM000671.1:g.36222947T>C	GRCh37
NC_000009.10:g.36212947T>C	NCBI36
NG_008246.1:g.59095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1553A>G (GNE) MANE Plus Clinical	ENSP00000379839.3:p.His518Arg
ENST00000543356.7:c.1283A>G (GNE)	ENSP00000437765.3:p.His428Arg
ENST00000642385.2:c.1460A>G (GNE) MANE Select	ENSP00000494141.2:p.His487Arg
ENST00000377902.5:c.1460A>G (GNE)	ENSP00000367134.4:p.His487Arg
ENST00000396594.7:c.1553A>G (GNE)	ENSP00000379839.3:p.His518Arg
ENST00000447283.6:c.1411+423A>G (GNE)	ENSP00000414760.2:n.1411+423A>G
ENST00000464497.5:c.485+18771T>C (CLTA)	ENSP00000419158.1:n.485+18771T>C
ENST00000539208.5:c.1130A>G (GNE)	ENSP00000445117.1:p.His377Arg
ENST00000539815.5:c.1460A>G (GNE)	ENSP00000439155.1:p.His487Arg
ENST00000543356.6:c.1445A>G (GNE)	ENSP00000437765.2:p.His482Arg
NM_001128227.2:c.1553A>G (GNE)	NP_001121699.1:p.His518Arg
NM_001190383.1:c.1411+423A>G (GNE)	NP_001177312.1:n.1411+423A>G
NM_001190384.1:c.1130A>G (GNE)	NP_001177313.1:p.His377Arg
NM_001190388.1:c.1445A>G (GNE)	NP_001177317.1:p.His482Arg
NM_005476.5:c.1460A>G (GNE)	NP_005467.1:p.His487Arg
XM_005251334.3:c.1400A>G (GNE)	XP_005251391.1:p.His467Arg
NM_001190383.2:c.1411+423A>G (GNE)	NP_001177312.1:n.1411+423A>G
NM_001190384.2:c.1130A>G (GNE)	NP_001177313.1:p.His377Arg
NM_005476.6:c.1460A>G (GNE)	NP_005467.1:p.His487Arg
XM_005251334.4:c.1400A>G (GNE)	XP_005251391.1:p.His467Arg
XM_017014167.1:c.1460A>G (GNE)	XP_016869656.1:p.His487Arg
XM_017014168.1:c.1307A>G (GNE)	XP_016869657.1:p.His436Arg
NM_001128227.3:c.1553A>G (GNE) MANE Plus Clinical	NP_001121699.1:p.His518Arg
NM_001190383.3:c.1411+423A>G (GNE)	NP_001177312.1:n.1411+423A>G
NM_001190384.3:c.1130A>G (GNE)	NP_001177313.1:p.His377Arg
NM_001190388.2:c.1283A>G (GNE)	NP_001177317.2:p.His428Arg
NM_001374797.1:c.1307A>G (GNE)	NP_001361726.1:p.His436Arg
NM_001374798.1:c.1283A>G (GNE)	NP_001361727.1:p.His428Arg
NM_005476.7:c.1460A>G (GNE) MANE Select	NP_005467.1:p.His487Arg