Canonical Allele Identifier: CA2664804417

Gene: NGLY1

Linked Data

• gnomAD v4: 3-25737290-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737290G>T , CM000665.2:g.25737290G>T	GRCh38
NC_000003.11:g.25778781G>T , CM000665.1:g.25778781G>T	GRCh37
NC_000003.10:g.25753785G>T	NCBI36
NG_034108.1:g.57750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.1003+44C>A MANE Select	ENSP00000280700.5:n.1003+44C>A
ENST00000463611.2:c.*1094+44C>A	ENSP00000501918.1:n.*1094+44C>A
ENST00000674841.1:n.1126+44C>A
ENST00000675178.1:n.168-3308C>A
ENST00000675217.1:c.*376+44C>A	ENSP00000502195.1:n.*376+44C>A
ENST00000675234.1:c.*500+44C>A	ENSP00000502740.1:n.*500+44C>A
ENST00000675680.1:c.391-890C>A
ENST00000676225.1:c.882-890C>A	ENSP00000501622.1:n.882-890C>A
ENST00000280699.13:c.754+44C>A
ENST00000280700.9:c.1003+44C>A	ENSP00000280700.5:n.1003+44C>A
ENST00000308710.9:c.994+44C>A	ENSP00000307980.5:n.994+44C>A
ENST00000396649.7:c.1003+44C>A	ENSP00000379886.3:n.1003+44C>A
ENST00000417874.6:c.877+44C>A	ENSP00000389888.2:n.877+44C>A
ENST00000428257.5:c.1003+44C>A	ENSP00000387430.1:n.1003+44C>A
ENST00000493324.5:n.1071C>A
NM_001145293.1:c.1003+44C>A	NP_001138765.1:n.1003+44C>A
NM_001145294.1:c.877+44C>A	NP_001138766.1:n.877+44C>A
NM_001145295.1:c.1003+44C>A	NP_001138767.1:n.1003+44C>A
NM_018297.3:c.1003+44C>A	NP_060767.2:n.1003+44C>A
XM_005265316.1:c.1003+44C>A	XP_005265373.1:n.1003+44C>A
XM_005265317.1:c.1003+44C>A	XP_005265374.1:n.1003+44C>A
XM_011533944.1:c.772+44C>A	XP_011532246.1:n.772+44C>A
XM_011533945.1:c.1003+44C>A	XP_011532247.1:n.1003+44C>A
XR_940470.1:n.1056+44C>A
XR_940471.1:n.1056+44C>A
XM_017006839.2:c.1003+44C>A	XP_016862328.1:n.1003+44C>A
XR_001740200.2:n.1056+44C>A
XR_002959548.1:n.1056+44C>A
XR_940471.2:n.1056+44C>A
NM_018297.4:c.1003+44C>A MANE Select	NP_060767.2:n.1003+44C>A
NM_001145293.2:c.1003+44C>A	NP_001138765.1:n.1003+44C>A
NM_001145294.2:c.877+44C>A	NP_001138766.1:n.877+44C>A
NM_001145295.2:c.1003+44C>A	NP_001138767.1:n.1003+44C>A