Canonical Allele Identifier: CA351901967

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778869C>T (hg19) ; chr3:g.25737378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737378C>T , CM000665.2:g.25737378C>T	GRCh38
NC_000003.11:g.25778869C>T , CM000665.1:g.25778869C>T	GRCh37
NC_000003.10:g.25753873C>T	NCBI36
NG_034108.1:g.57662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.959G>A MANE Select	ENSP00000280700.5:p.Cys320Tyr
ENST00000463611.2:c.*1050G>A	ENSP00000501918.1:n.*1050G>A
ENST00000674841.1:n.1082G>A
ENST00000675178.1:n.168-3396G>A
ENST00000675217.1:c.*332G>A	ENSP00000502195.1:n.*332G>A
ENST00000675234.1:c.*456G>A	ENSP00000502740.1:n.*456G>A
ENST00000675680.1:c.391-978G>A
ENST00000676225.1:c.882-978G>A	ENSP00000501622.1:n.882-978G>A
ENST00000280699.13:c.710G>A
ENST00000280700.9:c.959G>A	ENSP00000280700.5:p.Cys320Tyr
ENST00000308710.9:c.950G>A	ENSP00000307980.5:p.Cys317Tyr
ENST00000396649.7:c.959G>A	ENSP00000379886.3:p.Cys320Tyr
ENST00000417874.6:c.833G>A	ENSP00000389888.2:p.Cys278Tyr
ENST00000428257.5:c.959G>A	ENSP00000387430.1:p.Cys320Tyr
ENST00000493324.5:n.983G>A
NM_001145293.1:c.959G>A	NP_001138765.1:p.Cys320Tyr
NM_001145294.1:c.833G>A	NP_001138766.1:p.Cys278Tyr
NM_001145295.1:c.959G>A	NP_001138767.1:p.Cys320Tyr
NM_018297.3:c.959G>A	NP_060767.2:p.Cys320Tyr
XM_005265316.1:c.959G>A	XP_005265373.1:p.Cys320Tyr
XM_005265317.1:c.959G>A	XP_005265374.1:p.Cys320Tyr
XM_011533944.1:c.728G>A	XP_011532246.1:p.Cys243Tyr
XM_011533945.1:c.959G>A	XP_011532247.1:p.Cys320Tyr
XR_940470.1:n.1012G>A
XR_940471.1:n.1012G>A
XM_017006839.2:c.959G>A	XP_016862328.1:p.Cys320Tyr
XR_001740200.2:n.1012G>A
XR_002959548.1:n.1012G>A
XR_940471.2:n.1012G>A
NM_018297.4:c.959G>A MANE Select	NP_060767.2:p.Cys320Tyr
NM_001145293.2:c.959G>A	NP_001138765.1:p.Cys320Tyr
NM_001145294.2:c.833G>A	NP_001138766.1:p.Cys278Tyr
NM_001145295.2:c.959G>A	NP_001138767.1:p.Cys320Tyr