Canonical Allele Identifier: CA351902209

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778917G>C (hg19) ; chr3:g.25737426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737426G>C , CM000665.2:g.25737426G>C	GRCh38
NC_000003.11:g.25778917G>C , CM000665.1:g.25778917G>C	GRCh37
NC_000003.10:g.25753921G>C	NCBI36
NG_034108.1:g.57614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.911C>G MANE Select	ENSP00000280700.5:p.Thr304Arg
ENST00000463611.2:c.*1002C>G	ENSP00000501918.1:n.*1002C>G
ENST00000674841.1:n.1034C>G
ENST00000675178.1:n.168-3444C>G
ENST00000675217.1:c.*284C>G	ENSP00000502195.1:n.*284C>G
ENST00000675234.1:c.*408C>G	ENSP00000502740.1:n.*408C>G
ENST00000675680.1:c.391-1026C>G
ENST00000676225.1:c.882-1026C>G	ENSP00000501622.1:n.882-1026C>G
ENST00000280699.13:c.662C>G
ENST00000280700.9:c.911C>G	ENSP00000280700.5:p.Thr304Arg
ENST00000308710.9:c.902C>G	ENSP00000307980.5:p.Thr301Arg
ENST00000396649.7:c.911C>G	ENSP00000379886.3:p.Thr304Arg
ENST00000417874.6:c.785C>G	ENSP00000389888.2:p.Thr262Arg
ENST00000428257.5:c.911C>G	ENSP00000387430.1:p.Thr304Arg
ENST00000493324.5:n.935C>G
NM_001145293.1:c.911C>G	NP_001138765.1:p.Thr304Arg
NM_001145294.1:c.785C>G	NP_001138766.1:p.Thr262Arg
NM_001145295.1:c.911C>G	NP_001138767.1:p.Thr304Arg
NM_018297.3:c.911C>G	NP_060767.2:p.Thr304Arg
XM_005265316.1:c.911C>G	XP_005265373.1:p.Thr304Arg
XM_005265317.1:c.911C>G	XP_005265374.1:p.Thr304Arg
XM_011533944.1:c.680C>G	XP_011532246.1:p.Thr227Arg
XM_011533945.1:c.911C>G	XP_011532247.1:p.Thr304Arg
XR_940470.1:n.964C>G
XR_940471.1:n.964C>G
XM_017006839.2:c.911C>G	XP_016862328.1:p.Thr304Arg
XR_001740200.2:n.964C>G
XR_002959548.1:n.964C>G
XR_940471.2:n.964C>G
NM_018297.4:c.911C>G MANE Select	NP_060767.2:p.Thr304Arg
NM_001145293.2:c.911C>G	NP_001138765.1:p.Thr304Arg
NM_001145294.2:c.785C>G	NP_001138766.1:p.Thr262Arg
NM_001145295.2:c.911C>G	NP_001138767.1:p.Thr304Arg