Canonical Allele Identifier: CA351901781

Gene: NGLY1

Linked Data

• MyVariant Identifiers: chr3:g.25778834C>G (hg19) ; chr3:g.25737343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737343C>G , CM000665.2:g.25737343C>G	GRCh38
NC_000003.11:g.25778834C>G , CM000665.1:g.25778834C>G	GRCh37
NC_000003.10:g.25753838C>G	NCBI36
NG_034108.1:g.57697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.994G>C MANE Select	ENSP00000280700.5:p.Asp332His
ENST00000463611.2:c.*1085G>C	ENSP00000501918.1:n.*1085G>C
ENST00000674841.1:n.1117G>C
ENST00000675178.1:n.168-3361G>C
ENST00000675217.1:c.*367G>C	ENSP00000502195.1:n.*367G>C
ENST00000675234.1:c.*491G>C	ENSP00000502740.1:n.*491G>C
ENST00000675680.1:c.391-943G>C
ENST00000676225.1:c.882-943G>C	ENSP00000501622.1:n.882-943G>C
ENST00000280699.13:c.745G>C
ENST00000280700.9:c.994G>C	ENSP00000280700.5:p.Asp332His
ENST00000308710.9:c.985G>C	ENSP00000307980.5:p.Asp329His
ENST00000396649.7:c.994G>C	ENSP00000379886.3:p.Asp332His
ENST00000417874.6:c.868G>C	ENSP00000389888.2:p.Asp290His
ENST00000428257.5:c.994G>C	ENSP00000387430.1:p.Asp332His
ENST00000493324.5:n.1018G>C
NM_001145293.1:c.994G>C	NP_001138765.1:p.Asp332His
NM_001145294.1:c.868G>C	NP_001138766.1:p.Asp290His
NM_001145295.1:c.994G>C	NP_001138767.1:p.Asp332His
NM_018297.3:c.994G>C	NP_060767.2:p.Asp332His
XM_005265316.1:c.994G>C	XP_005265373.1:p.Asp332His
XM_005265317.1:c.994G>C	XP_005265374.1:p.Asp332His
XM_011533944.1:c.763G>C	XP_011532246.1:p.Asp255His
XM_011533945.1:c.994G>C	XP_011532247.1:p.Asp332His
XR_940470.1:n.1047G>C
XR_940471.1:n.1047G>C
XM_017006839.2:c.994G>C	XP_016862328.1:p.Asp332His
XR_001740200.2:n.1047G>C
XR_002959548.1:n.1047G>C
XR_940471.2:n.1047G>C
NM_018297.4:c.994G>C MANE Select	NP_060767.2:p.Asp332His
NM_001145293.2:c.994G>C	NP_001138765.1:p.Asp332His
NM_001145294.2:c.868G>C	NP_001138766.1:p.Asp290His
NM_001145295.2:c.994G>C	NP_001138767.1:p.Asp332His