Canonical Allele Identifier: CA71653113
Gene: NGLY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.25732450C>A , CM000665.2:g.25732450C>A GRCh38
NC_000003.11:g.25773941C>A , CM000665.1:g.25773941C>A GRCh37
NC_000003.10:g.25748945C>A NCBI36
NG_034108.1:g.62590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000280700.10:c.1294G>T MANE Select ENSP00000280700.5:p.Glu432Ter
ENST00000463611.2:c.*1385G>T ENSP00000501918.1:n.*1385G>T
ENST00000674841.1:n.1417G>T
ENST00000675178.1:n.312G>T
ENST00000675217.1:c.*667G>T ENSP00000502195.1:n.*667G>T
ENST00000675234.1:c.*791G>T ENSP00000502740.1:n.*791G>T
ENST00000675680.1:c.739+1422G>T
ENST00000676225.1:c.1264G>T ENSP00000501622.1:p.Glu422Ter
ENST00000280699.13:c.1045G>T
ENST00000280700.9:c.1294G>T ENSP00000280700.5:p.Glu432Ter
ENST00000308710.9:c.1231G>T ENSP00000307980.5:p.Glu411Ter
ENST00000396649.7:c.1294G>T ENSP00000379886.3:p.Glu432Ter
ENST00000417874.6:c.1168G>T ENSP00000389888.2:p.Glu390Ter
ENST00000428257.5:c.1240G>T ENSP00000387430.1:p.Glu414Ter
ENST00000467224.5:n.113+1422G>T
ENST00000493324.5:n.2197G>T
ENST00000496726.5:n.2475+1422G>T
NM_001145293.1:c.1240G>T NP_001138765.1:p.Glu414Ter
NM_001145294.1:c.1168G>T NP_001138766.1:p.Glu390Ter
NM_001145295.1:c.1294G>T NP_001138767.1:p.Glu432Ter
NM_018297.3:c.1294G>T NP_060767.2:p.Glu432Ter
XM_005265316.1:c.1260+1422G>T XP_005265373.1:n.1260+1422G>T
XM_005265317.1:c.1260+1422G>T XP_005265374.1:n.1260+1422G>T
XM_011533944.1:c.1063G>T XP_011532246.1:p.Glu355Ter
XR_940470.1:n.1347G>T
XR_940471.1:n.1439G>T
XM_017006839.2:c.1294G>T XP_016862328.1:p.Glu432Ter
XR_001740200.2:n.1405+1422G>T
XR_002959548.1:n.1201G>T
XR_940471.2:n.1439G>T
NM_018297.4:c.1294G>T MANE Select NP_060767.2:p.Glu432Ter
NM_001145293.2:c.1240G>T NP_001138765.1:p.Glu414Ter
NM_001145294.2:c.1168G>T NP_001138766.1:p.Glu390Ter
NM_001145295.2:c.1294G>T NP_001138767.1:p.Glu432Ter