Canonical Allele Identifier: CA432843139

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 2746120
• ClinVar RCV Id: RCV003582769
• MyVariant Identifiers: chr3:g.25778850T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737359T>C , CM000665.2:g.25737359T>C	GRCh38
NC_000003.11:g.25778850T>C , CM000665.1:g.25778850T>C	GRCh37
NC_000003.10:g.25753854T>C	NCBI36
NG_034108.1:g.57681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.978A>G MANE Select	ENSP00000280700.5:p.Glu326=
ENST00000463611.2:c.*1069A>G	ENSP00000501918.1:n.*1069A>G
ENST00000674841.1:n.1101A>G
ENST00000675178.1:n.168-3377A>G
ENST00000675217.1:c.*351A>G	ENSP00000502195.1:n.*351A>G
ENST00000675234.1:c.*475A>G	ENSP00000502740.1:n.*475A>G
ENST00000675680.1:c.391-959A>G
ENST00000676225.1:c.882-959A>G	ENSP00000501622.1:n.882-959A>G
ENST00000280699.13:c.729A>G
ENST00000280700.9:c.978A>G	ENSP00000280700.5:p.Glu326=
ENST00000308710.9:c.969A>G	ENSP00000307980.5:p.Glu323=
ENST00000396649.7:c.978A>G	ENSP00000379886.3:p.Glu326=
ENST00000417874.6:c.852A>G	ENSP00000389888.2:p.Glu284=
ENST00000428257.5:c.978A>G	ENSP00000387430.1:p.Glu326=
ENST00000493324.5:n.1002A>G
NM_001145293.1:c.978A>G	NP_001138765.1:p.Glu326=
NM_001145294.1:c.852A>G	NP_001138766.1:p.Glu284=
NM_001145295.1:c.978A>G	NP_001138767.1:p.Glu326=
NM_018297.3:c.978A>G	NP_060767.2:p.Glu326=
XM_005265316.1:c.978A>G	XP_005265373.1:p.Glu326=
XM_005265317.1:c.978A>G	XP_005265374.1:p.Glu326=
XM_011533944.1:c.747A>G	XP_011532246.1:p.Glu249=
XM_011533945.1:c.978A>G	XP_011532247.1:p.Glu326=
XR_940470.1:n.1031A>G
XR_940471.1:n.1031A>G
XM_017006839.2:c.978A>G	XP_016862328.1:p.Glu326=
XR_001740200.2:n.1031A>G
XR_002959548.1:n.1031A>G
XR_940471.2:n.1031A>G
NM_018297.4:c.978A>G MANE Select	NP_060767.2:p.Glu326=
NM_001145293.2:c.978A>G	NP_001138765.1:p.Glu326=
NM_001145294.2:c.852A>G	NP_001138766.1:p.Glu284=
NM_001145295.2:c.978A>G	NP_001138767.1:p.Glu326=