Canonical Allele Identifier: CA351902139

Gene: NGLY1

Linked Data

• COSMIC: COSM5555231 ; COSM5555232
• MyVariant Identifiers: chr3:g.25778900C>A (hg19) ; chr3:g.25737409C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737409C>A , CM000665.2:g.25737409C>A	GRCh38
NC_000003.11:g.25778900C>A , CM000665.1:g.25778900C>A	GRCh37
NC_000003.10:g.25753904C>A	NCBI36
NG_034108.1:g.57631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.928G>T MANE Select	ENSP00000280700.5:p.Gly310Cys
ENST00000463611.2:c.*1019G>T	ENSP00000501918.1:n.*1019G>T
ENST00000674841.1:n.1051G>T
ENST00000675178.1:n.168-3427G>T
ENST00000675217.1:c.*301G>T	ENSP00000502195.1:n.*301G>T
ENST00000675234.1:c.*425G>T	ENSP00000502740.1:n.*425G>T
ENST00000675680.1:c.391-1009G>T
ENST00000676225.1:c.882-1009G>T	ENSP00000501622.1:n.882-1009G>T
ENST00000280699.13:c.679G>T
ENST00000280700.9:c.928G>T	ENSP00000280700.5:p.Gly310Cys
ENST00000308710.9:c.919G>T	ENSP00000307980.5:p.Gly307Cys
ENST00000396649.7:c.928G>T	ENSP00000379886.3:p.Gly310Cys
ENST00000417874.6:c.802G>T	ENSP00000389888.2:p.Gly268Cys
ENST00000428257.5:c.928G>T	ENSP00000387430.1:p.Gly310Cys
ENST00000493324.5:n.952G>T
NM_001145293.1:c.928G>T	NP_001138765.1:p.Gly310Cys
NM_001145294.1:c.802G>T	NP_001138766.1:p.Gly268Cys
NM_001145295.1:c.928G>T	NP_001138767.1:p.Gly310Cys
NM_018297.3:c.928G>T	NP_060767.2:p.Gly310Cys
XM_005265316.1:c.928G>T	XP_005265373.1:p.Gly310Cys
XM_005265317.1:c.928G>T	XP_005265374.1:p.Gly310Cys
XM_011533944.1:c.697G>T	XP_011532246.1:p.Gly233Cys
XM_011533945.1:c.928G>T	XP_011532247.1:p.Gly310Cys
XR_940470.1:n.981G>T
XR_940471.1:n.981G>T
XM_017006839.2:c.928G>T	XP_016862328.1:p.Gly310Cys
XR_001740200.2:n.981G>T
XR_002959548.1:n.981G>T
XR_940471.2:n.981G>T
NM_018297.4:c.928G>T MANE Select	NP_060767.2:p.Gly310Cys
NM_001145293.2:c.928G>T	NP_001138765.1:p.Gly310Cys
NM_001145294.2:c.802G>T	NP_001138766.1:p.Gly268Cys
NM_001145295.2:c.928G>T	NP_001138767.1:p.Gly310Cys