Canonical Allele Identifier: CA432843168

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778901A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737410A>G , CM000665.2:g.25737410A>G	GRCh38
NC_000003.11:g.25778901A>G , CM000665.1:g.25778901A>G	GRCh37
NC_000003.10:g.25753905A>G	NCBI36
NG_034108.1:g.57630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.927T>C MANE Select	ENSP00000280700.5:p.Cys309=
ENST00000463611.2:c.*1018T>C	ENSP00000501918.1:n.*1018T>C
ENST00000674841.1:n.1050T>C
ENST00000675178.1:n.168-3428T>C
ENST00000675217.1:c.*300T>C	ENSP00000502195.1:n.*300T>C
ENST00000675234.1:c.*424T>C	ENSP00000502740.1:n.*424T>C
ENST00000675680.1:c.391-1010T>C
ENST00000676225.1:c.882-1010T>C	ENSP00000501622.1:n.882-1010T>C
ENST00000280699.13:c.678T>C
ENST00000280700.9:c.927T>C	ENSP00000280700.5:p.Cys309=
ENST00000308710.9:c.918T>C	ENSP00000307980.5:p.Cys306=
ENST00000396649.7:c.927T>C	ENSP00000379886.3:p.Cys309=
ENST00000417874.6:c.801T>C	ENSP00000389888.2:p.Cys267=
ENST00000428257.5:c.927T>C	ENSP00000387430.1:p.Cys309=
ENST00000493324.5:n.951T>C
NM_001145293.1:c.927T>C	NP_001138765.1:p.Cys309=
NM_001145294.1:c.801T>C	NP_001138766.1:p.Cys267=
NM_001145295.1:c.927T>C	NP_001138767.1:p.Cys309=
NM_018297.3:c.927T>C	NP_060767.2:p.Cys309=
XM_005265316.1:c.927T>C	XP_005265373.1:p.Cys309=
XM_005265317.1:c.927T>C	XP_005265374.1:p.Cys309=
XM_011533944.1:c.696T>C	XP_011532246.1:p.Cys232=
XM_011533945.1:c.927T>C	XP_011532247.1:p.Cys309=
XR_940470.1:n.980T>C
XR_940471.1:n.980T>C
XM_017006839.2:c.927T>C	XP_016862328.1:p.Cys309=
XR_001740200.2:n.980T>C
XR_002959548.1:n.980T>C
XR_940471.2:n.980T>C
NM_018297.4:c.927T>C MANE Select	NP_060767.2:p.Cys309=
NM_001145293.2:c.927T>C	NP_001138765.1:p.Cys309=
NM_001145294.2:c.801T>C	NP_001138766.1:p.Cys267=
NM_001145295.2:c.927T>C	NP_001138767.1:p.Cys309=