Canonical Allele Identifier: CA71655781

Gene: NGLY1

Linked Data

• dbSNP Id: rs530497544
• gnomAD v3: 3-25737427-T-C
• gnomAD v4: 3-25737427-T-C
• MyVariant Identifiers: chr3:g.25778918T>C (hg19) ; chr3:g.25737427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737427T>C , CM000665.2:g.25737427T>C	GRCh38
NC_000003.11:g.25778918T>C , CM000665.1:g.25778918T>C	GRCh37
NC_000003.10:g.25753922T>C	NCBI36
NG_034108.1:g.57613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.910A>G MANE Select	ENSP00000280700.5:p.Thr304Ala
ENST00000463611.2:c.*1001A>G	ENSP00000501918.1:n.*1001A>G
ENST00000674841.1:n.1033A>G
ENST00000675178.1:n.168-3445A>G
ENST00000675217.1:c.*283A>G	ENSP00000502195.1:n.*283A>G
ENST00000675234.1:c.*407A>G	ENSP00000502740.1:n.*407A>G
ENST00000675680.1:c.391-1027A>G
ENST00000676225.1:c.882-1027A>G	ENSP00000501622.1:n.882-1027A>G
ENST00000280699.13:c.661A>G
ENST00000280700.9:c.910A>G	ENSP00000280700.5:p.Thr304Ala
ENST00000308710.9:c.901A>G	ENSP00000307980.5:p.Thr301Ala
ENST00000396649.7:c.910A>G	ENSP00000379886.3:p.Thr304Ala
ENST00000417874.6:c.784A>G	ENSP00000389888.2:p.Thr262Ala
ENST00000428257.5:c.910A>G	ENSP00000387430.1:p.Thr304Ala
ENST00000493324.5:n.934A>G
NM_001145293.1:c.910A>G	NP_001138765.1:p.Thr304Ala
NM_001145294.1:c.784A>G	NP_001138766.1:p.Thr262Ala
NM_001145295.1:c.910A>G	NP_001138767.1:p.Thr304Ala
NM_018297.3:c.910A>G	NP_060767.2:p.Thr304Ala
XM_005265316.1:c.910A>G	XP_005265373.1:p.Thr304Ala
XM_005265317.1:c.910A>G	XP_005265374.1:p.Thr304Ala
XM_011533944.1:c.679A>G	XP_011532246.1:p.Thr227Ala
XM_011533945.1:c.910A>G	XP_011532247.1:p.Thr304Ala
XR_940470.1:n.963A>G
XR_940471.1:n.963A>G
XM_017006839.2:c.910A>G	XP_016862328.1:p.Thr304Ala
XR_001740200.2:n.963A>G
XR_002959548.1:n.963A>G
XR_940471.2:n.963A>G
NM_018297.4:c.910A>G MANE Select	NP_060767.2:p.Thr304Ala
NM_001145293.2:c.910A>G	NP_001138765.1:p.Thr304Ala
NM_001145294.2:c.784A>G	NP_001138766.1:p.Thr262Ala
NM_001145295.2:c.910A>G	NP_001138767.1:p.Thr304Ala