Canonical Allele Identifier: CA5056482

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1203461
• ClinVar RCV Id: RCV001569498 ; RCV001827498 ; RCV002570772 ; RCV003416398
• dbSNP Id: rs551854437
• ExAC: 9:36222978 G / A
• gnomAD v2: 9-36222978-G-A
• gnomAD v3: 9-36222981-G-A
• gnomAD v4: 9-36222981-G-A
• COSMIC: COSM2775315 ; COSM2775316 ; COSM2775317
• MyVariant Identifiers: chr9:g.36222978G>A (hg19) ; chr9:g.36222981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222981G>A , CM000671.2:g.36222981G>A	GRCh38
NC_000009.11:g.36222978G>A , CM000671.1:g.36222978G>A	GRCh37
NC_000009.10:g.36212978G>A	NCBI36
NG_008246.1:g.59064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1522C>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Arg508Cys
ENST00000543356.7:c.1252C>T (GNE)	ENSP00000437765.3:p.Arg418Cys
ENST00000642385.2:c.1429C>T (GNE) MANE Select	ENSP00000494141.2:p.Arg477Cys
ENST00000377902.5:c.1429C>T (GNE)	ENSP00000367134.4:p.Arg477Cys
ENST00000396594.7:c.1522C>T (GNE)	ENSP00000379839.3:p.Arg508Cys
ENST00000447283.6:c.1411+392C>T (GNE)	ENSP00000414760.2:n.1411+392C>T
ENST00000464497.5:c.485+18802G>A (CLTA)	ENSP00000419158.1:n.485+18802G>A
ENST00000539208.5:c.1099C>T (GNE)	ENSP00000445117.1:p.Arg367Cys
ENST00000539815.5:c.1429C>T (GNE)	ENSP00000439155.1:p.Arg477Cys
ENST00000543356.6:c.1414C>T (GNE)	ENSP00000437765.2:p.Arg472Cys
NM_001128227.2:c.1522C>T (GNE)	NP_001121699.1:p.Arg508Cys
NM_001190383.1:c.1411+392C>T (GNE)	NP_001177312.1:n.1411+392C>T
NM_001190384.1:c.1099C>T (GNE)	NP_001177313.1:p.Arg367Cys
NM_001190388.1:c.1414C>T (GNE)	NP_001177317.1:p.Arg472Cys
NM_005476.5:c.1429C>T (GNE)	NP_005467.1:p.Arg477Cys
XM_005251334.3:c.1369C>T (GNE)	XP_005251391.1:p.Arg457Cys
NM_001190383.2:c.1411+392C>T (GNE)	NP_001177312.1:n.1411+392C>T
NM_001190384.2:c.1099C>T (GNE)	NP_001177313.1:p.Arg367Cys
NM_005476.6:c.1429C>T (GNE)	NP_005467.1:p.Arg477Cys
XM_005251334.4:c.1369C>T (GNE)	XP_005251391.1:p.Arg457Cys
XM_017014167.1:c.1429C>T (GNE)	XP_016869656.1:p.Arg477Cys
XM_017014168.1:c.1276C>T (GNE)	XP_016869657.1:p.Arg426Cys
NM_001128227.3:c.1522C>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Arg508Cys
NM_001190383.3:c.1411+392C>T (GNE)	NP_001177312.1:n.1411+392C>T
NM_001190384.3:c.1099C>T (GNE)	NP_001177313.1:p.Arg367Cys
NM_001190388.2:c.1252C>T (GNE)	NP_001177317.2:p.Arg418Cys
NM_001374797.1:c.1276C>T (GNE)	NP_001361726.1:p.Arg426Cys
NM_001374798.1:c.1252C>T (GNE)	NP_001361727.1:p.Arg418Cys
NM_005476.7:c.1429C>T (GNE) MANE Select	NP_005467.1:p.Arg477Cys