Canonical Allele Identifier: CA351902191

Gene: NGLY1

Linked Data

• gnomAD v4: 3-25737419-A-C
• MyVariant Identifiers: chr3:g.25778910A>C (hg19) ; chr3:g.25737419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737419A>C , CM000665.2:g.25737419A>C	GRCh38
NC_000003.11:g.25778910A>C , CM000665.1:g.25778910A>C	GRCh37
NC_000003.10:g.25753914A>C	NCBI36
NG_034108.1:g.57621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.918T>G MANE Select	ENSP00000280700.5:p.Cys306Trp
ENST00000463611.2:c.*1009T>G	ENSP00000501918.1:n.*1009T>G
ENST00000674841.1:n.1041T>G
ENST00000675178.1:n.168-3437T>G
ENST00000675217.1:c.*291T>G	ENSP00000502195.1:n.*291T>G
ENST00000675234.1:c.*415T>G	ENSP00000502740.1:n.*415T>G
ENST00000675680.1:c.391-1019T>G
ENST00000676225.1:c.882-1019T>G	ENSP00000501622.1:n.882-1019T>G
ENST00000280699.13:c.669T>G
ENST00000280700.9:c.918T>G	ENSP00000280700.5:p.Cys306Trp
ENST00000308710.9:c.909T>G	ENSP00000307980.5:p.Cys303Trp
ENST00000396649.7:c.918T>G	ENSP00000379886.3:p.Cys306Trp
ENST00000417874.6:c.792T>G	ENSP00000389888.2:p.Cys264Trp
ENST00000428257.5:c.918T>G	ENSP00000387430.1:p.Cys306Trp
ENST00000493324.5:n.942T>G
NM_001145293.1:c.918T>G	NP_001138765.1:p.Cys306Trp
NM_001145294.1:c.792T>G	NP_001138766.1:p.Cys264Trp
NM_001145295.1:c.918T>G	NP_001138767.1:p.Cys306Trp
NM_018297.3:c.918T>G	NP_060767.2:p.Cys306Trp
XM_005265316.1:c.918T>G	XP_005265373.1:p.Cys306Trp
XM_005265317.1:c.918T>G	XP_005265374.1:p.Cys306Trp
XM_011533944.1:c.687T>G	XP_011532246.1:p.Cys229Trp
XM_011533945.1:c.918T>G	XP_011532247.1:p.Cys306Trp
XR_940470.1:n.971T>G
XR_940471.1:n.971T>G
XM_017006839.2:c.918T>G	XP_016862328.1:p.Cys306Trp
XR_001740200.2:n.971T>G
XR_002959548.1:n.971T>G
XR_940471.2:n.971T>G
NM_018297.4:c.918T>G MANE Select	NP_060767.2:p.Cys306Trp
NM_001145293.2:c.918T>G	NP_001138765.1:p.Cys306Trp
NM_001145294.2:c.792T>G	NP_001138766.1:p.Cys264Trp
NM_001145295.2:c.918T>G	NP_001138767.1:p.Cys306Trp