Canonical Allele Identifier: CA344238

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 41233
• ClinVar RCV Id: RCV000343796 ; RCV000726858 ; RCV001060883
• dbSNP Id: rs139425890
• ExAC: 9:36246117 T / A
• gnomAD v2: 9-36246117-T-A
• gnomAD v3: 9-36246120-T-A
• gnomAD v4: 9-36246120-T-A
• MyVariant Identifiers: chr9:g.36246117T>A (hg19) ; chr9:g.36246120T>A (hg38)
• PubMed: PMID:12473753 ; PMID:14707127 ; PMID:14733963 ; PMID:15136692 ; PMID:17704511 ; PMID:17718674 ; PMID:19917666 ; PMID:20301439 ; PMID:22196754 ; PMID:23891399 ; PMID:24027297 ; PMID:25303967 ; PMID:25986339 ; PMID:26161358

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246120T>A , CM000671.2:g.36246120T>A	GRCh38
NC_000009.11:g.36246117T>A , CM000671.1:g.36246117T>A	GRCh37
NC_000009.10:g.36236117T>A	NCBI36
NG_008246.1:g.35925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.620A>T (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Asp207Val
ENST00000543356.7:c.350A>T (GNE)	ENSP00000437765.3:p.Asp117Val
ENST00000642385.2:c.527A>T (GNE) MANE Select	ENSP00000494141.2:p.Asp176Val
ENST00000377902.5:c.527A>T (GNE)	ENSP00000367134.4:p.Asp176Val
ENST00000396594.7:c.620A>T (GNE)	ENSP00000379839.3:p.Asp207Val
ENST00000447283.6:c.527A>T (GNE)	ENSP00000414760.2:p.Asp176Val
ENST00000464497.5:c.486-17078T>A (CLTA)	ENSP00000419158.1:n.486-17078T>A
ENST00000539208.5:c.350A>T (GNE)	ENSP00000445117.1:p.Asp117Val
ENST00000539815.5:c.527A>T (GNE)	ENSP00000439155.1:p.Asp176Val
ENST00000543356.6:c.512A>T (GNE)	ENSP00000437765.2:p.Asp171Val
NM_001128227.2:c.620A>T (GNE)	NP_001121699.1:p.Asp207Val
NM_001190383.1:c.527A>T (GNE)	NP_001177312.1:p.Asp176Val
NM_001190384.1:c.350A>T (GNE)	NP_001177313.1:p.Asp117Val
NM_001190388.1:c.512A>T (GNE)	NP_001177317.1:p.Asp171Val
NM_005476.5:c.527A>T (GNE)	NP_005467.1:p.Asp176Val
XM_005251334.3:c.620A>T (GNE)	XP_005251391.1:p.Asp207Val
NM_001190383.2:c.527A>T (GNE)	NP_001177312.1:p.Asp176Val
NM_001190384.2:c.350A>T (GNE)	NP_001177313.1:p.Asp117Val
NM_005476.6:c.527A>T (GNE)	NP_005467.1:p.Asp176Val
XM_005251334.4:c.620A>T (GNE)	XP_005251391.1:p.Asp207Val
XM_017014167.1:c.527A>T (GNE)	XP_016869656.1:p.Asp176Val
XM_017014168.1:c.527A>T (GNE)	XP_016869657.1:p.Asp176Val
NM_001128227.3:c.620A>T (GNE) MANE Plus Clinical	NP_001121699.1:p.Asp207Val
NM_001190383.3:c.527A>T (GNE)	NP_001177312.1:p.Asp176Val
NM_001190384.3:c.350A>T (GNE)	NP_001177313.1:p.Asp117Val
NM_001190388.2:c.350A>T (GNE)	NP_001177317.2:p.Asp117Val
NM_001374797.1:c.527A>T (GNE)	NP_001361726.1:p.Asp176Val
NM_001374798.1:c.350A>T (GNE)	NP_001361727.1:p.Asp117Val
NM_005476.7:c.527A>T (GNE) MANE Select	NP_005467.1:p.Asp176Val