Canonical Allele Identifier: CA2289226

Gene: NGLY1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25733931T>C , CM000665.2:g.25733931T>C	GRCh38
NC_000003.11:g.25775422T>C , CM000665.1:g.25775422T>C	GRCh37
NC_000003.10:g.25750426T>C	NCBI36
NG_034108.1:g.61109A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.1201A>G MANE Select	ENSP00000280700.5:p.Arg401Gly
ENST00000463611.2:c.*1292A>G	ENSP00000501918.1:n.*1292A>G
ENST00000674841.1:n.1324A>G
ENST00000675178.1:n.219A>G
ENST00000675217.1:c.*574A>G	ENSP00000502195.1:n.*574A>G
ENST00000675234.1:c.*698A>G	ENSP00000502740.1:n.*698A>G
ENST00000675680.1:c.680A>G
ENST00000676225.1:c.1171A>G	ENSP00000501622.1:p.Arg391Gly
ENST00000280699.13:c.952A>G
ENST00000280700.9:c.1201A>G	ENSP00000280700.5:p.Arg401Gly
ENST00000308710.9:c.1138A>G	ENSP00000307980.5:p.Arg380Gly
ENST00000396649.7:c.1201A>G	ENSP00000379886.3:p.Arg401Gly
ENST00000417874.6:c.1075A>G	ENSP00000389888.2:p.Arg359Gly
ENST00000428257.5:c.1147A>G	ENSP00000387430.1:p.Arg383Gly
ENST00000467224.5:n.54A>G
ENST00000493324.5:n.2104A>G
ENST00000496726.5:n.2416A>G
NM_001145293.1:c.1147A>G	NP_001138765.1:p.Arg383Gly
NM_001145294.1:c.1075A>G	NP_001138766.1:p.Arg359Gly
NM_001145295.1:c.1201A>G	NP_001138767.1:p.Arg401Gly
NM_018297.3:c.1201A>G	NP_060767.2:p.Arg401Gly
XM_005265316.1:c.1201A>G	XP_005265373.1:p.Arg401Gly
XM_005265317.1:c.1201A>G	XP_005265374.1:p.Arg401Gly
XM_011533944.1:c.970A>G	XP_011532246.1:p.Arg324Gly
XM_011533945.1:c.*44A>G	XP_011532247.1:n.*44A>G
XR_940470.1:n.1254A>G
XR_940471.1:n.1346A>G
XM_017006839.2:c.1201A>G	XP_016862328.1:p.Arg401Gly
XR_001740200.2:n.1346A>G
XR_002959548.1:n.1108A>G
XR_940471.2:n.1346A>G
NM_018297.4:c.1201A>G MANE Select	NP_060767.2:p.Arg401Gly
NM_001145293.2:c.1147A>G	NP_001138765.1:p.Arg383Gly
NM_001145294.2:c.1075A>G	NP_001138766.1:p.Arg359Gly
NM_001145295.2:c.1201A>G	NP_001138767.1:p.Arg401Gly