Canonical Allele Identifier: CA2289338

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 221583
• ClinVar RCV Id: RCV000496110
• dbSNP Id: rs745814294
• ExAC: 3:25778898 G / A
• gnomAD v2: 3-25778898-G-A
• gnomAD v4: 3-25737407-G-A
• MyVariant Identifiers: chr3:g.25778898G>A (hg19) ; chr3:g.25737407G>A (hg38)
• PubMed: PMID:25900930 ; PMID:27388694

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737407G>A , CM000665.2:g.25737407G>A	GRCh38
NC_000003.11:g.25778898G>A , CM000665.1:g.25778898G>A	GRCh37
NC_000003.10:g.25753902G>A	NCBI36
NG_034108.1:g.57633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.930C>T MANE Select	ENSP00000280700.5:p.Gly310=
ENST00000463611.2:c.*1021C>T	ENSP00000501918.1:n.*1021C>T
ENST00000674841.1:n.1053C>T
ENST00000675178.1:n.168-3425C>T
ENST00000675217.1:c.*303C>T	ENSP00000502195.1:n.*303C>T
ENST00000675234.1:c.*427C>T	ENSP00000502740.1:n.*427C>T
ENST00000675680.1:c.391-1007C>T
ENST00000676225.1:c.882-1007C>T	ENSP00000501622.1:n.882-1007C>T
ENST00000280699.13:c.681C>T
ENST00000280700.9:c.930C>T	ENSP00000280700.5:p.Gly310=
ENST00000308710.9:c.921C>T	ENSP00000307980.5:p.Gly307=
ENST00000396649.7:c.930C>T	ENSP00000379886.3:p.Gly310=
ENST00000417874.6:c.804C>T	ENSP00000389888.2:p.Gly268=
ENST00000428257.5:c.930C>T	ENSP00000387430.1:p.Gly310=
ENST00000493324.5:n.954C>T
NM_001145293.1:c.930C>T	NP_001138765.1:p.Gly310=
NM_001145294.1:c.804C>T	NP_001138766.1:p.Gly268=
NM_001145295.1:c.930C>T	NP_001138767.1:p.Gly310=
NM_018297.3:c.930C>T	NP_060767.2:p.Gly310=
XM_005265316.1:c.930C>T	XP_005265373.1:p.Gly310=
XM_005265317.1:c.930C>T	XP_005265374.1:p.Gly310=
XM_011533944.1:c.699C>T	XP_011532246.1:p.Gly233=
XM_011533945.1:c.930C>T	XP_011532247.1:p.Gly310=
XR_940470.1:n.983C>T
XR_940471.1:n.983C>T
XM_017006839.2:c.930C>T	XP_016862328.1:p.Gly310=
XR_001740200.2:n.983C>T
XR_002959548.1:n.983C>T
XR_940471.2:n.983C>T
NM_018297.4:c.930C>T MANE Select	NP_060767.2:p.Gly310=
NM_001145293.2:c.930C>T	NP_001138765.1:p.Gly310=
NM_001145294.2:c.804C>T	NP_001138766.1:p.Gly268=
NM_001145295.2:c.930C>T	NP_001138767.1:p.Gly310=