Canonical Allele Identifier: CA351901845

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778845C>A (hg19) ; chr3:g.25737354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737354C>A , CM000665.2:g.25737354C>A	GRCh38
NC_000003.11:g.25778845C>A , CM000665.1:g.25778845C>A	GRCh37
NC_000003.10:g.25753849C>A	NCBI36
NG_034108.1:g.57686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.983G>T MANE Select	ENSP00000280700.5:p.Arg328Leu
ENST00000463611.2:c.*1074G>T	ENSP00000501918.1:n.*1074G>T
ENST00000674841.1:n.1106G>T
ENST00000675178.1:n.168-3372G>T
ENST00000675217.1:c.*356G>T	ENSP00000502195.1:n.*356G>T
ENST00000675234.1:c.*480G>T	ENSP00000502740.1:n.*480G>T
ENST00000675680.1:c.391-954G>T
ENST00000676225.1:c.882-954G>T	ENSP00000501622.1:n.882-954G>T
ENST00000280699.13:c.734G>T
ENST00000280700.9:c.983G>T	ENSP00000280700.5:p.Arg328Leu
ENST00000308710.9:c.974G>T	ENSP00000307980.5:p.Arg325Leu
ENST00000396649.7:c.983G>T	ENSP00000379886.3:p.Arg328Leu
ENST00000417874.6:c.857G>T	ENSP00000389888.2:p.Arg286Leu
ENST00000428257.5:c.983G>T	ENSP00000387430.1:p.Arg328Leu
ENST00000493324.5:n.1007G>T
NM_001145293.1:c.983G>T	NP_001138765.1:p.Arg328Leu
NM_001145294.1:c.857G>T	NP_001138766.1:p.Arg286Leu
NM_001145295.1:c.983G>T	NP_001138767.1:p.Arg328Leu
NM_018297.3:c.983G>T	NP_060767.2:p.Arg328Leu
XM_005265316.1:c.983G>T	XP_005265373.1:p.Arg328Leu
XM_005265317.1:c.983G>T	XP_005265374.1:p.Arg328Leu
XM_011533944.1:c.752G>T	XP_011532246.1:p.Arg251Leu
XM_011533945.1:c.983G>T	XP_011532247.1:p.Arg328Leu
XR_940470.1:n.1036G>T
XR_940471.1:n.1036G>T
XM_017006839.2:c.983G>T	XP_016862328.1:p.Arg328Leu
XR_001740200.2:n.1036G>T
XR_002959548.1:n.1036G>T
XR_940471.2:n.1036G>T
NM_018297.4:c.983G>T MANE Select	NP_060767.2:p.Arg328Leu
NM_001145293.2:c.983G>T	NP_001138765.1:p.Arg328Leu
NM_001145294.2:c.857G>T	NP_001138766.1:p.Arg286Leu
NM_001145295.2:c.983G>T	NP_001138767.1:p.Arg328Leu