Canonical Allele Identifier: CA351902016

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778879T>C (hg19) ; chr3:g.25737388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737388T>C , CM000665.2:g.25737388T>C	GRCh38
NC_000003.11:g.25778879T>C , CM000665.1:g.25778879T>C	GRCh37
NC_000003.10:g.25753883T>C	NCBI36
NG_034108.1:g.57652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.949A>G MANE Select	ENSP00000280700.5:p.Thr317Ala
ENST00000463611.2:c.*1040A>G	ENSP00000501918.1:n.*1040A>G
ENST00000674841.1:n.1072A>G
ENST00000675178.1:n.168-3406A>G
ENST00000675217.1:c.*322A>G	ENSP00000502195.1:n.*322A>G
ENST00000675234.1:c.*446A>G	ENSP00000502740.1:n.*446A>G
ENST00000675680.1:c.391-988A>G
ENST00000676225.1:c.882-988A>G	ENSP00000501622.1:n.882-988A>G
ENST00000280699.13:c.700A>G
ENST00000280700.9:c.949A>G	ENSP00000280700.5:p.Thr317Ala
ENST00000308710.9:c.940A>G	ENSP00000307980.5:p.Thr314Ala
ENST00000396649.7:c.949A>G	ENSP00000379886.3:p.Thr317Ala
ENST00000417874.6:c.823A>G	ENSP00000389888.2:p.Thr275Ala
ENST00000428257.5:c.949A>G	ENSP00000387430.1:p.Thr317Ala
ENST00000493324.5:n.973A>G
NM_001145293.1:c.949A>G	NP_001138765.1:p.Thr317Ala
NM_001145294.1:c.823A>G	NP_001138766.1:p.Thr275Ala
NM_001145295.1:c.949A>G	NP_001138767.1:p.Thr317Ala
NM_018297.3:c.949A>G	NP_060767.2:p.Thr317Ala
XM_005265316.1:c.949A>G	XP_005265373.1:p.Thr317Ala
XM_005265317.1:c.949A>G	XP_005265374.1:p.Thr317Ala
XM_011533944.1:c.718A>G	XP_011532246.1:p.Thr240Ala
XM_011533945.1:c.949A>G	XP_011532247.1:p.Thr317Ala
XR_940470.1:n.1002A>G
XR_940471.1:n.1002A>G
XM_017006839.2:c.949A>G	XP_016862328.1:p.Thr317Ala
XR_001740200.2:n.1002A>G
XR_002959548.1:n.1002A>G
XR_940471.2:n.1002A>G
NM_018297.4:c.949A>G MANE Select	NP_060767.2:p.Thr317Ala
NM_001145293.2:c.949A>G	NP_001138765.1:p.Thr317Ala
NM_001145294.2:c.823A>G	NP_001138766.1:p.Thr275Ala
NM_001145295.2:c.949A>G	NP_001138767.1:p.Thr317Ala