Canonical Allele Identifier: CA10627315

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 366812
• ClinVar RCV Id: RCV000290069 ; RCV000343565 ; RCV000397769
• dbSNP Id: rs41277097
• gnomAD v2: 9-36215634-G-A
• gnomAD v3: 9-36215637-G-A
• gnomAD v4: 9-36215637-G-A
• MyVariant Identifiers: chr9:g.36215634G>A (hg19) ; chr9:g.36215637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36215637G>A , CM000671.2:g.36215637G>A	GRCh38
NC_000009.11:g.36215634G>A , CM000671.1:g.36215634G>A	GRCh37
NC_000009.10:g.36205634G>A	NCBI36
NG_008246.1:g.66408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.*1728C>T (GNE) MANE Plus Clinical	ENSP00000379839.3:n.*1728C>T
ENST00000642385.2:c.*1728C>T (GNE) MANE Select	ENSP00000494141.2:n.*1728C>T
ENST00000396594.7:c.*1728C>T (GNE)	ENSP00000379839.3:n.*1728C>T
ENST00000464497.5:c.485+11458G>A (CLTA)	ENSP00000419158.1:n.485+11458G>A
ENST00000539815.5:c.*600-346C>T (GNE)	ENSP00000439155.1:n.*600-346C>T
NM_001128227.2:c.*1728C>T (GNE)	NP_001121699.1:n.*1728C>T
NM_001190383.1:c.*1728C>T (GNE)	NP_001177312.1:n.*1728C>T
NM_001190384.1:c.*1728C>T (GNE)	NP_001177313.1:n.*1728C>T
NM_001190388.1:c.*1728C>T (GNE)	NP_001177317.1:n.*1728C>T
NM_005476.5:c.*1728C>T (GNE)	NP_005467.1:n.*1728C>T
XM_005251334.3:c.*1728C>T (GNE)	XP_005251391.1:n.*1728C>T
NM_001190383.2:c.*1728C>T (GNE)	NP_001177312.1:n.*1728C>T
NM_001190384.2:c.*1728C>T (GNE)	NP_001177313.1:n.*1728C>T
NM_005476.6:c.*1728C>T (GNE)	NP_005467.1:n.*1728C>T
XM_017014167.1:c.*1728C>T (GNE)	XP_016869656.1:n.*1728C>T
XM_017014168.1:c.*1728C>T (GNE)	XP_016869657.1:n.*1728C>T
NM_001128227.3:c.*1728C>T (GNE) MANE Plus Clinical	NP_001121699.1:n.*1728C>T
NM_001190383.3:c.*1728C>T (GNE)	NP_001177312.1:n.*1728C>T
NM_001190384.3:c.*1728C>T (GNE)	NP_001177313.1:n.*1728C>T
NM_001190388.2:c.*1728C>T (GNE)	NP_001177317.2:n.*1728C>T
NM_001374797.1:c.*1728C>T (GNE)	NP_001361726.1:n.*1728C>T
NM_001374798.1:c.*1728C>T (GNE)	NP_001361727.1:n.*1728C>T
NM_005476.7:c.*1728C>T (GNE) MANE Select	NP_005467.1:n.*1728C>T