Canonical Allele Identifier: CA1352483342

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737427T= , CM000665.2:g.25737427T=	GRCh38
NC_000003.11:g.25778918T= , CM000665.1:g.25778918T=	GRCh37
NC_000003.10:g.25753922T=	NCBI36
NG_034108.1:g.57613A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.910A= MANE Select	ENSP00000280700.5:p.Thr304=
ENST00000463611.2:c.*1001A=	ENSP00000501918.1:n.*1001A=
ENST00000674841.1:n.1033A=
ENST00000675178.1:n.168-3445A=
ENST00000675217.1:c.*283A=	ENSP00000502195.1:n.*283A=
ENST00000675234.1:c.*407A=	ENSP00000502740.1:n.*407A=
ENST00000675680.1:c.391-1027A=
ENST00000676225.1:c.882-1027A=	ENSP00000501622.1:n.882-1027A=
ENST00000280699.13:c.661A=
ENST00000280700.9:c.910A=	ENSP00000280700.5:p.Thr304=
ENST00000308710.9:c.901A=	ENSP00000307980.5:p.Thr301=
ENST00000396649.7:c.910A=	ENSP00000379886.3:p.Thr304=
ENST00000417874.6:c.784A=	ENSP00000389888.2:p.Thr262=
ENST00000428257.5:c.910A=	ENSP00000387430.1:p.Thr304=
ENST00000493324.5:n.934A=
NM_001145293.1:c.910A=	NP_001138765.1:p.Thr304=
NM_001145294.1:c.784A=	NP_001138766.1:p.Thr262=
NM_001145295.1:c.910A=	NP_001138767.1:p.Thr304=
NM_018297.3:c.910A=	NP_060767.2:p.Thr304=
XM_005265316.1:c.910A=	XP_005265373.1:p.Thr304=
XM_005265317.1:c.910A=	XP_005265374.1:p.Thr304=
XM_011533944.1:c.679A=	XP_011532246.1:p.Thr227=
XM_011533945.1:c.910A=	XP_011532247.1:p.Thr304=
XR_940470.1:n.963A=
XR_940471.1:n.963A=
XM_017006839.2:c.910A=	XP_016862328.1:p.Thr304=
XR_001740200.2:n.963A=
XR_002959548.1:n.963A=
XR_940471.2:n.963A=
NM_018297.4:c.910A= MANE Select	NP_060767.2:p.Thr304=
NM_001145293.2:c.910A=	NP_001138765.1:p.Thr304=
NM_001145294.2:c.784A=	NP_001138766.1:p.Thr262=
NM_001145295.2:c.910A=	NP_001138767.1:p.Thr304=