Canonical Allele Identifier: CA71655782

Gene: NGLY1

Linked Data

• dbSNP Id: rs952264389
• gnomAD v2: 3-25778921-C-T
• gnomAD v3: 3-25737430-C-T
• gnomAD v4: 3-25737430-C-T
• MyVariant Identifiers: chr3:g.25778921C>T (hg19) ; chr3:g.25737430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737430C>T , CM000665.2:g.25737430C>T	GRCh38
NC_000003.11:g.25778921C>T , CM000665.1:g.25778921C>T	GRCh37
NC_000003.10:g.25753925C>T	NCBI36
NG_034108.1:g.57610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.907G>A MANE Select	ENSP00000280700.5:p.Glu303Lys
ENST00000463611.2:c.*998G>A	ENSP00000501918.1:n.*998G>A
ENST00000674841.1:n.1030G>A
ENST00000675178.1:n.168-3448G>A
ENST00000675217.1:c.*280G>A	ENSP00000502195.1:n.*280G>A
ENST00000675234.1:c.*404G>A	ENSP00000502740.1:n.*404G>A
ENST00000675680.1:c.391-1030G>A
ENST00000676225.1:c.882-1030G>A	ENSP00000501622.1:n.882-1030G>A
ENST00000280699.13:c.658G>A
ENST00000280700.9:c.907G>A	ENSP00000280700.5:p.Glu303Lys
ENST00000308710.9:c.898G>A	ENSP00000307980.5:p.Glu300Lys
ENST00000396649.7:c.907G>A	ENSP00000379886.3:p.Glu303Lys
ENST00000417874.6:c.781G>A	ENSP00000389888.2:p.Glu261Lys
ENST00000428257.5:c.907G>A	ENSP00000387430.1:p.Glu303Lys
ENST00000493324.5:n.931G>A
NM_001145293.1:c.907G>A	NP_001138765.1:p.Glu303Lys
NM_001145294.1:c.781G>A	NP_001138766.1:p.Glu261Lys
NM_001145295.1:c.907G>A	NP_001138767.1:p.Glu303Lys
NM_018297.3:c.907G>A	NP_060767.2:p.Glu303Lys
XM_005265316.1:c.907G>A	XP_005265373.1:p.Glu303Lys
XM_005265317.1:c.907G>A	XP_005265374.1:p.Glu303Lys
XM_011533944.1:c.676G>A	XP_011532246.1:p.Glu226Lys
XM_011533945.1:c.907G>A	XP_011532247.1:p.Glu303Lys
XR_940470.1:n.960G>A
XR_940471.1:n.960G>A
XM_017006839.2:c.907G>A	XP_016862328.1:p.Glu303Lys
XR_001740200.2:n.960G>A
XR_002959548.1:n.960G>A
XR_940471.2:n.960G>A
NM_018297.4:c.907G>A MANE Select	NP_060767.2:p.Glu303Lys
NM_001145293.2:c.907G>A	NP_001138765.1:p.Glu303Lys
NM_001145294.2:c.781G>A	NP_001138766.1:p.Glu261Lys
NM_001145295.2:c.907G>A	NP_001138767.1:p.Glu303Lys