Canonical Allele Identifier: CA351902200

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778913T>A (hg19) ; chr3:g.25737422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737422T>A , CM000665.2:g.25737422T>A	GRCh38
NC_000003.11:g.25778913T>A , CM000665.1:g.25778913T>A	GRCh37
NC_000003.10:g.25753917T>A	NCBI36
NG_034108.1:g.57618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.915A>T MANE Select	ENSP00000280700.5:p.Arg305Ser
ENST00000463611.2:c.*1006A>T	ENSP00000501918.1:n.*1006A>T
ENST00000674841.1:n.1038A>T
ENST00000675178.1:n.168-3440A>T
ENST00000675217.1:c.*288A>T	ENSP00000502195.1:n.*288A>T
ENST00000675234.1:c.*412A>T	ENSP00000502740.1:n.*412A>T
ENST00000675680.1:c.391-1022A>T
ENST00000676225.1:c.882-1022A>T	ENSP00000501622.1:n.882-1022A>T
ENST00000280699.13:c.666A>T
ENST00000280700.9:c.915A>T	ENSP00000280700.5:p.Arg305Ser
ENST00000308710.9:c.906A>T	ENSP00000307980.5:p.Arg302Ser
ENST00000396649.7:c.915A>T	ENSP00000379886.3:p.Arg305Ser
ENST00000417874.6:c.789A>T	ENSP00000389888.2:p.Arg263Ser
ENST00000428257.5:c.915A>T	ENSP00000387430.1:p.Arg305Ser
ENST00000493324.5:n.939A>T
NM_001145293.1:c.915A>T	NP_001138765.1:p.Arg305Ser
NM_001145294.1:c.789A>T	NP_001138766.1:p.Arg263Ser
NM_001145295.1:c.915A>T	NP_001138767.1:p.Arg305Ser
NM_018297.3:c.915A>T	NP_060767.2:p.Arg305Ser
XM_005265316.1:c.915A>T	XP_005265373.1:p.Arg305Ser
XM_005265317.1:c.915A>T	XP_005265374.1:p.Arg305Ser
XM_011533944.1:c.684A>T	XP_011532246.1:p.Arg228Ser
XM_011533945.1:c.915A>T	XP_011532247.1:p.Arg305Ser
XR_940470.1:n.968A>T
XR_940471.1:n.968A>T
XM_017006839.2:c.915A>T	XP_016862328.1:p.Arg305Ser
XR_001740200.2:n.968A>T
XR_002959548.1:n.968A>T
XR_940471.2:n.968A>T
NM_018297.4:c.915A>T MANE Select	NP_060767.2:p.Arg305Ser
NM_001145293.2:c.915A>T	NP_001138765.1:p.Arg305Ser
NM_001145294.2:c.789A>T	NP_001138766.1:p.Arg263Ser
NM_001145295.2:c.915A>T	NP_001138767.1:p.Arg305Ser