Canonical Allele Identifier: CA1352483304

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737351T= , CM000665.2:g.25737351T=	GRCh38
NC_000003.11:g.25778842T= , CM000665.1:g.25778842T=	GRCh37
NC_000003.10:g.25753846T=	NCBI36
NG_034108.1:g.57689A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.986A= MANE Select	ENSP00000280700.5:p.Tyr329=
ENST00000463611.2:c.*1077A=	ENSP00000501918.1:n.*1077A=
ENST00000674841.1:n.1109A=
ENST00000675178.1:n.168-3369A=
ENST00000675217.1:c.*359A=	ENSP00000502195.1:n.*359A=
ENST00000675234.1:c.*483A=	ENSP00000502740.1:n.*483A=
ENST00000675680.1:c.391-951A=
ENST00000676225.1:c.882-951A=	ENSP00000501622.1:n.882-951A=
ENST00000280699.13:c.737A=
ENST00000280700.9:c.986A=	ENSP00000280700.5:p.Tyr329=
ENST00000308710.9:c.977A=	ENSP00000307980.5:p.Tyr326=
ENST00000396649.7:c.986A=	ENSP00000379886.3:p.Tyr329=
ENST00000417874.6:c.860A=	ENSP00000389888.2:p.Tyr287=
ENST00000428257.5:c.986A=	ENSP00000387430.1:p.Tyr329=
ENST00000493324.5:n.1010A=
NM_001145293.1:c.986A=	NP_001138765.1:p.Tyr329=
NM_001145294.1:c.860A=	NP_001138766.1:p.Tyr287=
NM_001145295.1:c.986A=	NP_001138767.1:p.Tyr329=
NM_018297.3:c.986A=	NP_060767.2:p.Tyr329=
XM_005265316.1:c.986A=	XP_005265373.1:p.Tyr329=
XM_005265317.1:c.986A=	XP_005265374.1:p.Tyr329=
XM_011533944.1:c.755A=	XP_011532246.1:p.Tyr252=
XM_011533945.1:c.986A=	XP_011532247.1:p.Tyr329=
XR_940470.1:n.1039A=
XR_940471.1:n.1039A=
XM_017006839.2:c.986A=	XP_016862328.1:p.Tyr329=
XR_001740200.2:n.1039A=
XR_002959548.1:n.1039A=
XR_940471.2:n.1039A=
NM_018297.4:c.986A= MANE Select	NP_060767.2:p.Tyr329=
NM_001145293.2:c.986A=	NP_001138765.1:p.Tyr329=
NM_001145294.2:c.860A=	NP_001138766.1:p.Tyr287=
NM_001145295.2:c.986A=	NP_001138767.1:p.Tyr329=