Canonical Allele Identifier: CA2289330

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 1503956
• ClinVar RCV Id: RCV002025833
• dbSNP Id: rs200601419
• ExAC: 3:25778860 A / G
• gnomAD v2: 3-25778860-A-G
• gnomAD v3: 3-25737369-A-G
• gnomAD v4: 3-25737369-A-G
• MyVariant Identifiers: chr3:g.25778860A>G (hg19) ; chr3:g.25737369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737369A>G , CM000665.2:g.25737369A>G	GRCh38
NC_000003.11:g.25778860A>G , CM000665.1:g.25778860A>G	GRCh37
NC_000003.10:g.25753864A>G	NCBI36
NG_034108.1:g.57671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.968T>C MANE Select	ENSP00000280700.5:p.Val323Ala
ENST00000463611.2:c.*1059T>C	ENSP00000501918.1:n.*1059T>C
ENST00000674841.1:n.1091T>C
ENST00000675178.1:n.168-3387T>C
ENST00000675217.1:c.*341T>C	ENSP00000502195.1:n.*341T>C
ENST00000675234.1:c.*465T>C	ENSP00000502740.1:n.*465T>C
ENST00000675680.1:c.391-969T>C
ENST00000676225.1:c.882-969T>C	ENSP00000501622.1:n.882-969T>C
ENST00000280699.13:c.719T>C
ENST00000280700.9:c.968T>C	ENSP00000280700.5:p.Val323Ala
ENST00000308710.9:c.959T>C	ENSP00000307980.5:p.Val320Ala
ENST00000396649.7:c.968T>C	ENSP00000379886.3:p.Val323Ala
ENST00000417874.6:c.842T>C	ENSP00000389888.2:p.Val281Ala
ENST00000428257.5:c.968T>C	ENSP00000387430.1:p.Val323Ala
ENST00000493324.5:n.992T>C
NM_001145293.1:c.968T>C	NP_001138765.1:p.Val323Ala
NM_001145294.1:c.842T>C	NP_001138766.1:p.Val281Ala
NM_001145295.1:c.968T>C	NP_001138767.1:p.Val323Ala
NM_018297.3:c.968T>C	NP_060767.2:p.Val323Ala
XM_005265316.1:c.968T>C	XP_005265373.1:p.Val323Ala
XM_005265317.1:c.968T>C	XP_005265374.1:p.Val323Ala
XM_011533944.1:c.737T>C	XP_011532246.1:p.Val246Ala
XM_011533945.1:c.968T>C	XP_011532247.1:p.Val323Ala
XR_940470.1:n.1021T>C
XR_940471.1:n.1021T>C
XM_017006839.2:c.968T>C	XP_016862328.1:p.Val323Ala
XR_001740200.2:n.1021T>C
XR_002959548.1:n.1021T>C
XR_940471.2:n.1021T>C
NM_018297.4:c.968T>C MANE Select	NP_060767.2:p.Val323Ala
NM_001145293.2:c.968T>C	NP_001138765.1:p.Val323Ala
NM_001145294.2:c.842T>C	NP_001138766.1:p.Val281Ala
NM_001145295.2:c.968T>C	NP_001138767.1:p.Val323Ala