Canonical Allele Identifier: CA351894466

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25720179G>C , CM000665.2:g.25720179G>C	GRCh38
NC_000003.11:g.25761670G>C , CM000665.1:g.25761670G>C	GRCh37
NC_000003.10:g.25736674G>C	NCBI36
NG_034108.1:g.74861C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018297.4:c.1624C>G MANE Select	NP_060767.2:p.Arg542Gly
ENST00000280700.10:c.1624C>G MANE Select	ENSP00000280700.5:p.Arg542Gly
NM_001145293.1:c.1570C>G	NP_001138765.1:p.Arg524Gly
NM_001145293.2:c.1570C>G	NP_001138765.1:p.Arg524Gly
NM_001145294.1:c.1498C>G	NP_001138766.1:p.Arg500Gly
NM_001145294.2:c.1498C>G	NP_001138766.1:p.Arg500Gly
NM_001145295.1:c.1612-544C>G	NP_001138767.1:n.1612-544C>G
NM_001145295.2:c.1612-544C>G	NP_001138767.1:n.1612-544C>G
NM_018297.3:c.1624C>G	NP_060767.2:p.Arg542Gly
ENST00000280699.13:c.1375C>G
ENST00000280700.9:c.1624C>G	ENSP00000280700.5:p.Arg542Gly
ENST00000308710.9:c.1561C>G	ENSP00000307980.5:p.Arg521Gly
ENST00000396649.7:c.1612-544C>G	ENSP00000379886.3:n.1612-544C>G
ENST00000417874.6:c.1498C>G	ENSP00000389888.2:p.Arg500Gly
ENST00000428257.5:c.1570C>G	ENSP00000387430.1:p.Arg524Gly
ENST00000463611.2:c.*1715C>G	ENSP00000501918.1:n.*1715C>G
ENST00000467224.5:n.312C>G
ENST00000489271.5:n.1431C>G
ENST00000493324.5:n.2527C>G
ENST00000496726.5:n.2674C>G
ENST00000674841.1:n.1747C>G
ENST00000675178.1:n.885C>G
ENST00000675217.1:c.*997C>G	ENSP00000502195.1:n.*997C>G
ENST00000675234.1:c.*1121C>G	ENSP00000502740.1:n.*1121C>G
ENST00000675680.1:c.938C>G
ENST00000676225.1:c.1594C>G	ENSP00000501622.1:p.Arg532Gly
XM_005265316.1:c.1459C>G	XP_005265373.1:p.Arg487Gly
XM_005265317.1:c.1447-544C>G	XP_005265374.1:n.1447-544C>G
XM_011533944.1:c.1393C>G	XP_011532246.1:p.Arg465Gly
XR_001740200.2:n.1604C>G
XR_002959548.1:n.1531C>G
XR_940470.1:n.1920C>G
XR_940471.1:n.1769C>G
XR_940471.2:n.1769C>G