Canonical Allele Identifier: CA2289325

Gene: NGLY1

Linked Data

• dbSNP Id: rs753425724
• ExAC: 3:25778842 T / G
• gnomAD v2: 3-25778842-T-G
• gnomAD v4: 3-25737351-T-G
• MyVariant Identifiers: chr3:g.25778842T>G (hg19) ; chr3:g.25737351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737351T>G , CM000665.2:g.25737351T>G	GRCh38
NC_000003.11:g.25778842T>G , CM000665.1:g.25778842T>G	GRCh37
NC_000003.10:g.25753846T>G	NCBI36
NG_034108.1:g.57689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.986A>C MANE Select	ENSP00000280700.5:p.Tyr329Ser
ENST00000463611.2:c.*1077A>C	ENSP00000501918.1:n.*1077A>C
ENST00000674841.1:n.1109A>C
ENST00000675178.1:n.168-3369A>C
ENST00000675217.1:c.*359A>C	ENSP00000502195.1:n.*359A>C
ENST00000675234.1:c.*483A>C	ENSP00000502740.1:n.*483A>C
ENST00000675680.1:c.391-951A>C
ENST00000676225.1:c.882-951A>C	ENSP00000501622.1:n.882-951A>C
ENST00000280699.13:c.737A>C
ENST00000280700.9:c.986A>C	ENSP00000280700.5:p.Tyr329Ser
ENST00000308710.9:c.977A>C	ENSP00000307980.5:p.Tyr326Ser
ENST00000396649.7:c.986A>C	ENSP00000379886.3:p.Tyr329Ser
ENST00000417874.6:c.860A>C	ENSP00000389888.2:p.Tyr287Ser
ENST00000428257.5:c.986A>C	ENSP00000387430.1:p.Tyr329Ser
ENST00000493324.5:n.1010A>C
NM_001145293.1:c.986A>C	NP_001138765.1:p.Tyr329Ser
NM_001145294.1:c.860A>C	NP_001138766.1:p.Tyr287Ser
NM_001145295.1:c.986A>C	NP_001138767.1:p.Tyr329Ser
NM_018297.3:c.986A>C	NP_060767.2:p.Tyr329Ser
XM_005265316.1:c.986A>C	XP_005265373.1:p.Tyr329Ser
XM_005265317.1:c.986A>C	XP_005265374.1:p.Tyr329Ser
XM_011533944.1:c.755A>C	XP_011532246.1:p.Tyr252Ser
XM_011533945.1:c.986A>C	XP_011532247.1:p.Tyr329Ser
XR_940470.1:n.1039A>C
XR_940471.1:n.1039A>C
XM_017006839.2:c.986A>C	XP_016862328.1:p.Tyr329Ser
XR_001740200.2:n.1039A>C
XR_002959548.1:n.1039A>C
XR_940471.2:n.1039A>C
NM_018297.4:c.986A>C MANE Select	NP_060767.2:p.Tyr329Ser
NM_001145293.2:c.986A>C	NP_001138765.1:p.Tyr329Ser
NM_001145294.2:c.860A>C	NP_001138766.1:p.Tyr287Ser
NM_001145295.2:c.986A>C	NP_001138767.1:p.Tyr329Ser