Canonical Allele Identifier: CA1352475504
Gene: NGLY1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_018297.4:c.1624C= MANE Select NP_060767.2:p.Arg542=
ENST00000280700.10:c.1624C= MANE Select ENSP00000280700.5:p.Arg542=
NM_001145293.1:c.1570C= NP_001138765.1:p.Arg524=
NM_001145293.2:c.1570C= NP_001138765.1:p.Arg524=
NM_001145294.1:c.1498C= NP_001138766.1:p.Arg500=
NM_001145294.2:c.1498C= NP_001138766.1:p.Arg500=
NM_001145295.1:c.1612-544C= NP_001138767.1:n.1612-544C=
NM_001145295.2:c.1612-544C= NP_001138767.1:n.1612-544C=
NM_018297.3:c.1624C= NP_060767.2:p.Arg542=
ENST00000280699.13:c.1375C=
ENST00000280700.9:c.1624C= ENSP00000280700.5:p.Arg542=
ENST00000308710.9:c.1561C= ENSP00000307980.5:p.Arg521=
ENST00000396649.7:c.1612-544C= ENSP00000379886.3:n.1612-544C=
ENST00000417874.6:c.1498C= ENSP00000389888.2:p.Arg500=
ENST00000428257.5:c.1570C= ENSP00000387430.1:p.Arg524=
ENST00000463611.2:c.*1715C= ENSP00000501918.1:n.*1715C=
ENST00000467224.5:n.312C=
ENST00000489271.5:n.1431C=
ENST00000493324.5:n.2527C=
ENST00000496726.5:n.2674C=
ENST00000674841.1:n.1747C=
ENST00000675178.1:n.885C=
ENST00000675217.1:c.*997C= ENSP00000502195.1:n.*997C=
ENST00000675234.1:c.*1121C= ENSP00000502740.1:n.*1121C=
ENST00000675680.1:c.938C=
ENST00000676225.1:c.1594C= ENSP00000501622.1:p.Arg532=
XM_005265316.1:c.1459C= XP_005265373.1:p.Arg487=
XM_005265317.1:c.1447-544C= XP_005265374.1:n.1447-544C=
XM_011533944.1:c.1393C= XP_011532246.1:p.Arg465=
XR_001740200.2:n.1604C=
XR_002959548.1:n.1531C=
XR_940470.1:n.1920C=
XR_940471.1:n.1769C=
XR_940471.2:n.1769C=