Canonical Allele Identifier: CA2289336

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 221576
• ClinVar RCV Id: RCV000496158 ; RCV001731437 ; RCV002273988
• dbSNP Id: rs201791209
• ExAC: 3:25778897 C / T
• gnomAD v2: 3-25778897-C-T
• gnomAD v3: 3-25737406-C-T
• gnomAD v4: 3-25737406-C-T
• COSMIC: COSM1422220 ; COSM4783014
• MyVariant Identifiers: chr3:g.25778897C>T (hg19) ; chr3:g.25737406C>T (hg38)
• PubMed: PMID:25900930 ; PMID:27388694

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737406C>T , CM000665.2:g.25737406C>T	GRCh38
NC_000003.11:g.25778897C>T , CM000665.1:g.25778897C>T	GRCh37
NC_000003.10:g.25753901C>T	NCBI36
NG_034108.1:g.57634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.931G>A MANE Select	ENSP00000280700.5:p.Glu311Lys
ENST00000463611.2:c.*1022G>A	ENSP00000501918.1:n.*1022G>A
ENST00000674841.1:n.1054G>A
ENST00000675178.1:n.168-3424G>A
ENST00000675217.1:c.*304G>A	ENSP00000502195.1:n.*304G>A
ENST00000675234.1:c.*428G>A	ENSP00000502740.1:n.*428G>A
ENST00000675680.1:c.391-1006G>A
ENST00000676225.1:c.882-1006G>A	ENSP00000501622.1:n.882-1006G>A
ENST00000280699.13:c.682G>A
ENST00000280700.9:c.931G>A	ENSP00000280700.5:p.Glu311Lys
ENST00000308710.9:c.922G>A	ENSP00000307980.5:p.Glu308Lys
ENST00000396649.7:c.931G>A	ENSP00000379886.3:p.Glu311Lys
ENST00000417874.6:c.805G>A	ENSP00000389888.2:p.Glu269Lys
ENST00000428257.5:c.931G>A	ENSP00000387430.1:p.Glu311Lys
ENST00000493324.5:n.955G>A
NM_001145293.1:c.931G>A	NP_001138765.1:p.Glu311Lys
NM_001145294.1:c.805G>A	NP_001138766.1:p.Glu269Lys
NM_001145295.1:c.931G>A	NP_001138767.1:p.Glu311Lys
NM_018297.3:c.931G>A	NP_060767.2:p.Glu311Lys
XM_005265316.1:c.931G>A	XP_005265373.1:p.Glu311Lys
XM_005265317.1:c.931G>A	XP_005265374.1:p.Glu311Lys
XM_011533944.1:c.700G>A	XP_011532246.1:p.Glu234Lys
XM_011533945.1:c.931G>A	XP_011532247.1:p.Glu311Lys
XR_940470.1:n.984G>A
XR_940471.1:n.984G>A
XM_017006839.2:c.931G>A	XP_016862328.1:p.Glu311Lys
XR_001740200.2:n.984G>A
XR_002959548.1:n.984G>A
XR_940471.2:n.984G>A
NM_018297.4:c.931G>A MANE Select	NP_060767.2:p.Glu311Lys
NM_001145293.2:c.931G>A	NP_001138765.1:p.Glu311Lys
NM_001145294.2:c.805G>A	NP_001138766.1:p.Glu269Lys
NM_001145295.2:c.931G>A	NP_001138767.1:p.Glu311Lys