Canonical Allele Identifier: CA2289334

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 1554269
• ClinVar RCV Id: RCV002199592
• dbSNP Id: rs781518537
• ExAC: 3:25778868 G / A
• gnomAD v2: 3-25778868-G-A
• gnomAD v3: 3-25737377-G-A
• gnomAD v4: 3-25737377-G-A
• MyVariant Identifiers: chr3:g.25778868G>A (hg19) ; chr3:g.25737377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737377G>A , CM000665.2:g.25737377G>A	GRCh38
NC_000003.11:g.25778868G>A , CM000665.1:g.25778868G>A	GRCh37
NC_000003.10:g.25753872G>A	NCBI36
NG_034108.1:g.57663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.960C>T MANE Select	ENSP00000280700.5:p.Cys320=
ENST00000463611.2:c.*1051C>T	ENSP00000501918.1:n.*1051C>T
ENST00000674841.1:n.1083C>T
ENST00000675178.1:n.168-3395C>T
ENST00000675217.1:c.*333C>T	ENSP00000502195.1:n.*333C>T
ENST00000675234.1:c.*457C>T	ENSP00000502740.1:n.*457C>T
ENST00000675680.1:c.391-977C>T
ENST00000676225.1:c.882-977C>T	ENSP00000501622.1:n.882-977C>T
ENST00000280699.13:c.711C>T
ENST00000280700.9:c.960C>T	ENSP00000280700.5:p.Cys320=
ENST00000308710.9:c.951C>T	ENSP00000307980.5:p.Cys317=
ENST00000396649.7:c.960C>T	ENSP00000379886.3:p.Cys320=
ENST00000417874.6:c.834C>T	ENSP00000389888.2:p.Cys278=
ENST00000428257.5:c.960C>T	ENSP00000387430.1:p.Cys320=
ENST00000493324.5:n.984C>T
NM_001145293.1:c.960C>T	NP_001138765.1:p.Cys320=
NM_001145294.1:c.834C>T	NP_001138766.1:p.Cys278=
NM_001145295.1:c.960C>T	NP_001138767.1:p.Cys320=
NM_018297.3:c.960C>T	NP_060767.2:p.Cys320=
XM_005265316.1:c.960C>T	XP_005265373.1:p.Cys320=
XM_005265317.1:c.960C>T	XP_005265374.1:p.Cys320=
XM_011533944.1:c.729C>T	XP_011532246.1:p.Cys243=
XM_011533945.1:c.960C>T	XP_011532247.1:p.Cys320=
XR_940470.1:n.1013C>T
XR_940471.1:n.1013C>T
XM_017006839.2:c.960C>T	XP_016862328.1:p.Cys320=
XR_001740200.2:n.1013C>T
XR_002959548.1:n.1013C>T
XR_940471.2:n.1013C>T
NM_018297.4:c.960C>T MANE Select	NP_060767.2:p.Cys320=
NM_001145293.2:c.960C>T	NP_001138765.1:p.Cys320=
NM_001145294.2:c.834C>T	NP_001138766.1:p.Cys278=
NM_001145295.2:c.960C>T	NP_001138767.1:p.Cys320=