Canonical Allele Identifier: CA1352483317

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737376G= , CM000665.2:g.25737376G=	GRCh38
NC_000003.11:g.25778867G= , CM000665.1:g.25778867G=	GRCh37
NC_000003.10:g.25753871G=	NCBI36
NG_034108.1:g.57664C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.961C= MANE Select	ENSP00000280700.5:p.Arg321=
ENST00000463611.2:c.*1052C=	ENSP00000501918.1:n.*1052C=
ENST00000674841.1:n.1084C=
ENST00000675178.1:n.168-3394C=
ENST00000675217.1:c.*334C=	ENSP00000502195.1:n.*334C=
ENST00000675234.1:c.*458C=	ENSP00000502740.1:n.*458C=
ENST00000675680.1:c.391-976C=
ENST00000676225.1:c.882-976C=	ENSP00000501622.1:n.882-976C=
ENST00000280699.13:c.712C=
ENST00000280700.9:c.961C=	ENSP00000280700.5:p.Arg321=
ENST00000308710.9:c.952C=	ENSP00000307980.5:p.Arg318=
ENST00000396649.7:c.961C=	ENSP00000379886.3:p.Arg321=
ENST00000417874.6:c.835C=	ENSP00000389888.2:p.Arg279=
ENST00000428257.5:c.961C=	ENSP00000387430.1:p.Arg321=
ENST00000493324.5:n.985C=
NM_001145293.1:c.961C=	NP_001138765.1:p.Arg321=
NM_001145294.1:c.835C=	NP_001138766.1:p.Arg279=
NM_001145295.1:c.961C=	NP_001138767.1:p.Arg321=
NM_018297.3:c.961C=	NP_060767.2:p.Arg321=
XM_005265316.1:c.961C=	XP_005265373.1:p.Arg321=
XM_005265317.1:c.961C=	XP_005265374.1:p.Arg321=
XM_011533944.1:c.730C=	XP_011532246.1:p.Arg244=
XM_011533945.1:c.961C=	XP_011532247.1:p.Arg321=
XR_940470.1:n.1014C=
XR_940471.1:n.1014C=
XM_017006839.2:c.961C=	XP_016862328.1:p.Arg321=
XR_001740200.2:n.1014C=
XR_002959548.1:n.1014C=
XR_940471.2:n.1014C=
NM_018297.4:c.961C= MANE Select	NP_060767.2:p.Arg321=
NM_001145293.2:c.961C=	NP_001138765.1:p.Arg321=
NM_001145294.2:c.835C=	NP_001138766.1:p.Arg279=
NM_001145295.2:c.961C=	NP_001138767.1:p.Arg321=