Canonical Allele Identifier: CA351902232

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778928T>G (hg19) ; chr3:g.25737437T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737437T>G , CM000665.2:g.25737437T>G	GRCh38
NC_000003.11:g.25778928T>G , CM000665.1:g.25778928T>G	GRCh37
NC_000003.10:g.25753932T>G	NCBI36
NG_034108.1:g.57603A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.900A>C MANE Select	ENSP00000280700.5:p.Lys300Asn
ENST00000463611.2:c.*991A>C	ENSP00000501918.1:n.*991A>C
ENST00000674841.1:n.1023A>C
ENST00000675178.1:n.168-3455A>C
ENST00000675217.1:c.*273A>C	ENSP00000502195.1:n.*273A>C
ENST00000675234.1:c.*397A>C	ENSP00000502740.1:n.*397A>C
ENST00000675680.1:c.391-1037A>C
ENST00000676225.1:c.882-1037A>C	ENSP00000501622.1:n.882-1037A>C
ENST00000280699.13:c.651A>C
ENST00000280700.9:c.900A>C	ENSP00000280700.5:p.Lys300Asn
ENST00000308710.9:c.891A>C	ENSP00000307980.5:p.Lys297Asn
ENST00000396649.7:c.900A>C	ENSP00000379886.3:p.Lys300Asn
ENST00000417874.6:c.774A>C	ENSP00000389888.2:p.Lys258Asn
ENST00000428257.5:c.900A>C	ENSP00000387430.1:p.Lys300Asn
ENST00000493324.5:n.924A>C
NM_001145293.1:c.900A>C	NP_001138765.1:p.Lys300Asn
NM_001145294.1:c.774A>C	NP_001138766.1:p.Lys258Asn
NM_001145295.1:c.900A>C	NP_001138767.1:p.Lys300Asn
NM_018297.3:c.900A>C	NP_060767.2:p.Lys300Asn
XM_005265316.1:c.900A>C	XP_005265373.1:p.Lys300Asn
XM_005265317.1:c.900A>C	XP_005265374.1:p.Lys300Asn
XM_011533944.1:c.669A>C	XP_011532246.1:p.Lys223Asn
XM_011533945.1:c.900A>C	XP_011532247.1:p.Lys300Asn
XR_940470.1:n.953A>C
XR_940471.1:n.953A>C
XM_017006839.2:c.900A>C	XP_016862328.1:p.Lys300Asn
XR_001740200.2:n.953A>C
XR_002959548.1:n.953A>C
XR_940471.2:n.953A>C
NM_018297.4:c.900A>C MANE Select	NP_060767.2:p.Lys300Asn
NM_001145293.2:c.900A>C	NP_001138765.1:p.Lys300Asn
NM_001145294.2:c.774A>C	NP_001138766.1:p.Lys258Asn
NM_001145295.2:c.900A>C	NP_001138767.1:p.Lys300Asn