Canonical Allele Identifier: CA2289115

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25729116T>G , CM000665.2:g.25729116T>G	GRCh38
NC_000003.11:g.25770607T>G , CM000665.1:g.25770607T>G	GRCh37
NC_000003.10:g.25745611T>G	NCBI36
NG_034108.1:g.65924A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018297.4:c.1611+17A>C MANE Select	NP_060767.2:n.1611+17A>C
ENST00000280700.10:c.1611+17A>C MANE Select	ENSP00000280700.5:n.1611+17A>C
NM_001145293.1:c.1557+17A>C	NP_001138765.1:n.1557+17A>C
NM_001145293.2:c.1557+17A>C	NP_001138765.1:n.1557+17A>C
NM_001145294.1:c.1485+17A>C	NP_001138766.1:n.1485+17A>C
NM_001145294.2:c.1485+17A>C	NP_001138766.1:n.1485+17A>C
NM_001145295.1:c.1611+17A>C	NP_001138767.1:n.1611+17A>C
NM_001145295.2:c.1611+17A>C	NP_001138767.1:n.1611+17A>C
NM_018297.3:c.1611+17A>C	NP_060767.2:n.1611+17A>C
ENST00000280699.13:c.1362+17A>C
ENST00000280700.9:c.1611+17A>C	ENSP00000280700.5:n.1611+17A>C
ENST00000308710.9:c.1548+17A>C	ENSP00000307980.5:n.1548+17A>C
ENST00000396649.7:c.1611+17A>C	ENSP00000379886.3:n.1611+17A>C
ENST00000417874.6:c.1485+17A>C	ENSP00000389888.2:n.1485+17A>C
ENST00000428257.5:c.1557+17A>C	ENSP00000387430.1:n.1557+17A>C
ENST00000463611.2:c.*1702+17A>C	ENSP00000501918.1:n.*1702+17A>C
ENST00000467224.5:n.299+17A>C
ENST00000489271.5:n.1418+17A>C
ENST00000493324.5:n.2514+17A>C
ENST00000496726.5:n.2661+17A>C
ENST00000674841.1:n.1734+17A>C
ENST00000675178.1:n.629+17A>C
ENST00000675217.1:c.*984+17A>C	ENSP00000502195.1:n.*984+17A>C
ENST00000675234.1:c.*1108+17A>C	ENSP00000502740.1:n.*1108+17A>C
ENST00000675680.1:c.925+17A>C
ENST00000676225.1:c.1581+17A>C	ENSP00000501622.1:n.1581+17A>C
XM_005265316.1:c.1446+17A>C	XP_005265373.1:n.1446+17A>C
XM_005265317.1:c.1446+17A>C	XP_005265374.1:n.1446+17A>C
XM_011533944.1:c.1380+17A>C	XP_011532246.1:n.1380+17A>C
XM_017006839.2:c.1611+17A>C	XP_016862328.1:n.1611+17A>C
XR_001740200.2:n.1591+17A>C
XR_002959548.1:n.1518+17A>C
XR_940470.1:n.1664+17A>C
XR_940471.1:n.1756+17A>C
XR_940471.2:n.1756+17A>C