Canonical Allele Identifier: CA351901858

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778846G>C (hg19) ; chr3:g.25737355G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737355G>C , CM000665.2:g.25737355G>C	GRCh38
NC_000003.11:g.25778846G>C , CM000665.1:g.25778846G>C	GRCh37
NC_000003.10:g.25753850G>C	NCBI36
NG_034108.1:g.57685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.982C>G MANE Select	ENSP00000280700.5:p.Arg328Gly
ENST00000463611.2:c.*1073C>G	ENSP00000501918.1:n.*1073C>G
ENST00000674841.1:n.1105C>G
ENST00000675178.1:n.168-3373C>G
ENST00000675217.1:c.*355C>G	ENSP00000502195.1:n.*355C>G
ENST00000675234.1:c.*479C>G	ENSP00000502740.1:n.*479C>G
ENST00000675680.1:c.391-955C>G
ENST00000676225.1:c.882-955C>G	ENSP00000501622.1:n.882-955C>G
ENST00000280699.13:c.733C>G
ENST00000280700.9:c.982C>G	ENSP00000280700.5:p.Arg328Gly
ENST00000308710.9:c.973C>G	ENSP00000307980.5:p.Arg325Gly
ENST00000396649.7:c.982C>G	ENSP00000379886.3:p.Arg328Gly
ENST00000417874.6:c.856C>G	ENSP00000389888.2:p.Arg286Gly
ENST00000428257.5:c.982C>G	ENSP00000387430.1:p.Arg328Gly
ENST00000493324.5:n.1006C>G
NM_001145293.1:c.982C>G	NP_001138765.1:p.Arg328Gly
NM_001145294.1:c.856C>G	NP_001138766.1:p.Arg286Gly
NM_001145295.1:c.982C>G	NP_001138767.1:p.Arg328Gly
NM_018297.3:c.982C>G	NP_060767.2:p.Arg328Gly
XM_005265316.1:c.982C>G	XP_005265373.1:p.Arg328Gly
XM_005265317.1:c.982C>G	XP_005265374.1:p.Arg328Gly
XM_011533944.1:c.751C>G	XP_011532246.1:p.Arg251Gly
XM_011533945.1:c.982C>G	XP_011532247.1:p.Arg328Gly
XR_940470.1:n.1035C>G
XR_940471.1:n.1035C>G
XM_017006839.2:c.982C>G	XP_016862328.1:p.Arg328Gly
XR_001740200.2:n.1035C>G
XR_002959548.1:n.1035C>G
XR_940471.2:n.1035C>G
NM_018297.4:c.982C>G MANE Select	NP_060767.2:p.Arg328Gly
NM_001145293.2:c.982C>G	NP_001138765.1:p.Arg328Gly
NM_001145294.2:c.856C>G	NP_001138766.1:p.Arg286Gly
NM_001145295.2:c.982C>G	NP_001138767.1:p.Arg328Gly