Canonical Allele Identifier: CA351909620

Gene: NGLY1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25764244A>G , CM000665.2:g.25764244A>G	GRCh38
NC_000003.11:g.25805735A>G , CM000665.1:g.25805735A>G	GRCh37
NC_000003.10:g.25780739A>G	NCBI36
NG_034108.1:g.30796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.314T>C MANE Select	ENSP00000280700.5:p.Ile105Thr
ENST00000463611.2:c.*405T>C	ENSP00000501918.1:n.*405T>C
ENST00000674841.1:n.406T>C
ENST00000675217.1:c.314T>C	ENSP00000502195.1:p.Ile105Thr
ENST00000675234.1:c.314T>C	ENSP00000502740.1:p.Ile105Thr
ENST00000676225.1:c.314T>C	ENSP00000501622.1:p.Ile105Thr
ENST00000280699.13:c.288T>C
ENST00000280700.9:c.314T>C	ENSP00000280700.5:p.Ile105Thr
ENST00000308710.9:c.305T>C	ENSP00000307980.5:p.Ile102Thr
ENST00000396649.7:c.314T>C	ENSP00000379886.3:p.Ile105Thr
ENST00000417874.6:c.188T>C	ENSP00000389888.2:p.Ile63Thr
ENST00000427041.1:c.83T>C	ENSP00000412946.1:p.Ile28Thr
ENST00000428257.5:c.314T>C	ENSP00000387430.1:p.Ile105Thr
ENST00000461491.5:n.437T>C
ENST00000493324.5:n.338T>C
NM_001145293.1:c.314T>C	NP_001138765.1:p.Ile105Thr
NM_001145294.1:c.188T>C	NP_001138766.1:p.Ile63Thr
NM_001145295.1:c.314T>C	NP_001138767.1:p.Ile105Thr
NM_018297.3:c.314T>C	NP_060767.2:p.Ile105Thr
XM_005265316.1:c.314T>C	XP_005265373.1:p.Ile105Thr
XM_005265317.1:c.314T>C	XP_005265374.1:p.Ile105Thr
XM_011533944.1:c.83T>C	XP_011532246.1:p.Ile28Thr
XM_011533945.1:c.314T>C	XP_011532247.1:p.Ile105Thr
XR_940470.1:n.367T>C
XR_940471.1:n.367T>C
XM_017006839.2:c.314T>C	XP_016862328.1:p.Ile105Thr
XR_001740200.2:n.367T>C
XR_002959548.1:n.367T>C
XR_940471.2:n.367T>C
NM_018297.4:c.314T>C MANE Select	NP_060767.2:p.Ile105Thr
NM_001145293.2:c.314T>C	NP_001138765.1:p.Ile105Thr
NM_001145294.2:c.188T>C	NP_001138766.1:p.Ile63Thr
NM_001145295.2:c.314T>C	NP_001138767.1:p.Ile105Thr