Canonical Allele Identifier: CA2289348

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 976511
• ClinVar RCV Id: RCV001253826
• dbSNP Id: rs377722046
• ExAC: 3:25778943 A / G
• gnomAD v2: 3-25778943-A-G
• gnomAD v3: 3-25737452-A-G
• gnomAD v4: 3-25737452-A-G
• MyVariant Identifiers: chr3:g.25778943A>G (hg19) ; chr3:g.25737452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737452A>G , CM000665.2:g.25737452A>G	GRCh38
NC_000003.11:g.25778943A>G , CM000665.1:g.25778943A>G	GRCh37
NC_000003.10:g.25753947A>G	NCBI36
NG_034108.1:g.57588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.885T>C MANE Select	ENSP00000280700.5:p.Tyr295=
ENST00000463611.2:c.*976T>C	ENSP00000501918.1:n.*976T>C
ENST00000674841.1:n.1008T>C
ENST00000675178.1:n.168-3470T>C
ENST00000675217.1:c.*258T>C	ENSP00000502195.1:n.*258T>C
ENST00000675234.1:c.*382T>C	ENSP00000502740.1:n.*382T>C
ENST00000675680.1:c.391-1052T>C
ENST00000676225.1:c.882-1052T>C	ENSP00000501622.1:n.882-1052T>C
ENST00000280699.13:c.636T>C
ENST00000280700.9:c.885T>C	ENSP00000280700.5:p.Tyr295=
ENST00000308710.9:c.876T>C	ENSP00000307980.5:p.Tyr292=
ENST00000396649.7:c.885T>C	ENSP00000379886.3:p.Tyr295=
ENST00000417874.6:c.759T>C	ENSP00000389888.2:p.Tyr253=
ENST00000428257.5:c.885T>C	ENSP00000387430.1:p.Tyr295=
ENST00000493324.5:n.909T>C
NM_001145293.1:c.885T>C	NP_001138765.1:p.Tyr295=
NM_001145294.1:c.759T>C	NP_001138766.1:p.Tyr253=
NM_001145295.1:c.885T>C	NP_001138767.1:p.Tyr295=
NM_018297.3:c.885T>C	NP_060767.2:p.Tyr295=
XM_005265316.1:c.885T>C	XP_005265373.1:p.Tyr295=
XM_005265317.1:c.885T>C	XP_005265374.1:p.Tyr295=
XM_011533944.1:c.654T>C	XP_011532246.1:p.Tyr218=
XM_011533945.1:c.885T>C	XP_011532247.1:p.Tyr295=
XR_940470.1:n.938T>C
XR_940471.1:n.938T>C
XM_017006839.2:c.885T>C	XP_016862328.1:p.Tyr295=
XR_001740200.2:n.938T>C
XR_002959548.1:n.938T>C
XR_940471.2:n.938T>C
NM_018297.4:c.885T>C MANE Select	NP_060767.2:p.Tyr295=
NM_001145293.2:c.885T>C	NP_001138765.1:p.Tyr295=
NM_001145294.2:c.759T>C	NP_001138766.1:p.Tyr253=
NM_001145295.2:c.885T>C	NP_001138767.1:p.Tyr295=