Canonical Allele Identifier: CA351901928

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 640855
• ClinVar RCV Id: RCV000793967
• dbSNP Id: rs1279950302
• gnomAD v4: 3-25737370-C-T
• MyVariant Identifiers: chr3:g.25778861C>T (hg19) ; chr3:g.25737370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737370C>T , CM000665.2:g.25737370C>T	GRCh38
NC_000003.11:g.25778861C>T , CM000665.1:g.25778861C>T	GRCh37
NC_000003.10:g.25753865C>T	NCBI36
NG_034108.1:g.57670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.967G>A MANE Select	ENSP00000280700.5:p.Val323Ile
ENST00000463611.2:c.*1058G>A	ENSP00000501918.1:n.*1058G>A
ENST00000674841.1:n.1090G>A
ENST00000675178.1:n.168-3388G>A
ENST00000675217.1:c.*340G>A	ENSP00000502195.1:n.*340G>A
ENST00000675234.1:c.*464G>A	ENSP00000502740.1:n.*464G>A
ENST00000675680.1:c.391-970G>A
ENST00000676225.1:c.882-970G>A	ENSP00000501622.1:n.882-970G>A
ENST00000280699.13:c.718G>A
ENST00000280700.9:c.967G>A	ENSP00000280700.5:p.Val323Ile
ENST00000308710.9:c.958G>A	ENSP00000307980.5:p.Val320Ile
ENST00000396649.7:c.967G>A	ENSP00000379886.3:p.Val323Ile
ENST00000417874.6:c.841G>A	ENSP00000389888.2:p.Val281Ile
ENST00000428257.5:c.967G>A	ENSP00000387430.1:p.Val323Ile
ENST00000493324.5:n.991G>A
NM_001145293.1:c.967G>A	NP_001138765.1:p.Val323Ile
NM_001145294.1:c.841G>A	NP_001138766.1:p.Val281Ile
NM_001145295.1:c.967G>A	NP_001138767.1:p.Val323Ile
NM_018297.3:c.967G>A	NP_060767.2:p.Val323Ile
XM_005265316.1:c.967G>A	XP_005265373.1:p.Val323Ile
XM_005265317.1:c.967G>A	XP_005265374.1:p.Val323Ile
XM_011533944.1:c.736G>A	XP_011532246.1:p.Val246Ile
XM_011533945.1:c.967G>A	XP_011532247.1:p.Val323Ile
XR_940470.1:n.1020G>A
XR_940471.1:n.1020G>A
XM_017006839.2:c.967G>A	XP_016862328.1:p.Val323Ile
XR_001740200.2:n.1020G>A
XR_002959548.1:n.1020G>A
XR_940471.2:n.1020G>A
NM_018297.4:c.967G>A MANE Select	NP_060767.2:p.Val323Ile
NM_001145293.2:c.967G>A	NP_001138765.1:p.Val323Ile
NM_001145294.2:c.841G>A	NP_001138766.1:p.Val281Ile
NM_001145295.2:c.967G>A	NP_001138767.1:p.Val323Ile