Canonical Allele Identifier: CA1352481773

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25733931T= , CM000665.2:g.25733931T=	GRCh38
NC_000003.11:g.25775422T= , CM000665.1:g.25775422T=	GRCh37
NC_000003.10:g.25750426T=	NCBI36
NG_034108.1:g.61109A=

Transcript Alleles

HGVS	Amino-acid Change
NM_018297.4:c.1201A= MANE Select	NP_060767.2:p.Arg401=
ENST00000280700.10:c.1201A= MANE Select	ENSP00000280700.5:p.Arg401=
NM_001145293.1:c.1147A=	NP_001138765.1:p.Arg383=
NM_001145293.2:c.1147A=	NP_001138765.1:p.Arg383=
NM_001145294.1:c.1075A=	NP_001138766.1:p.Arg359=
NM_001145294.2:c.1075A=	NP_001138766.1:p.Arg359=
NM_001145295.1:c.1201A=	NP_001138767.1:p.Arg401=
NM_001145295.2:c.1201A=	NP_001138767.1:p.Arg401=
NM_018297.3:c.1201A=	NP_060767.2:p.Arg401=
ENST00000280699.13:c.952A=
ENST00000280700.9:c.1201A=	ENSP00000280700.5:p.Arg401=
ENST00000308710.9:c.1138A=	ENSP00000307980.5:p.Arg380=
ENST00000396649.7:c.1201A=	ENSP00000379886.3:p.Arg401=
ENST00000417874.6:c.1075A=	ENSP00000389888.2:p.Arg359=
ENST00000428257.5:c.1147A=	ENSP00000387430.1:p.Arg383=
ENST00000463611.2:c.*1292A=	ENSP00000501918.1:n.*1292A=
ENST00000467224.5:n.54A=
ENST00000493324.5:n.2104A=
ENST00000496726.5:n.2416A=
ENST00000674841.1:n.1324A=
ENST00000675178.1:n.219A=
ENST00000675217.1:c.*574A=	ENSP00000502195.1:n.*574A=
ENST00000675234.1:c.*698A=	ENSP00000502740.1:n.*698A=
ENST00000675680.1:c.680A=
ENST00000676225.1:c.1171A=	ENSP00000501622.1:p.Arg391=
XM_005265316.1:c.1201A=	XP_005265373.1:p.Arg401=
XM_005265317.1:c.1201A=	XP_005265374.1:p.Arg401=
XM_011533944.1:c.970A=	XP_011532246.1:p.Arg324=
XM_011533945.1:c.*44A=	XP_011532247.1:n.*44A=
XM_017006839.2:c.1201A=	XP_016862328.1:p.Arg401=
XR_001740200.2:n.1346A=
XR_002959548.1:n.1108A=
XR_940470.1:n.1254A=
XR_940471.1:n.1346A=
XR_940471.2:n.1346A=