Canonical Allele Identifier: CA71655707

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 2756985
• ClinVar RCV Id: RCV003582960
• dbSNP Id: rs1029275238
• MyVariant Identifiers: chr3:g.25778889G>C (hg19) ; chr3:g.25737398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737398G>C , CM000665.2:g.25737398G>C	GRCh38
NC_000003.11:g.25778889G>C , CM000665.1:g.25778889G>C	GRCh37
NC_000003.10:g.25753893G>C	NCBI36
NG_034108.1:g.57642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.939C>G MANE Select	ENSP00000280700.5:p.Ala313=
ENST00000463611.2:c.*1030C>G	ENSP00000501918.1:n.*1030C>G
ENST00000674841.1:n.1062C>G
ENST00000675178.1:n.168-3416C>G
ENST00000675217.1:c.*312C>G	ENSP00000502195.1:n.*312C>G
ENST00000675234.1:c.*436C>G	ENSP00000502740.1:n.*436C>G
ENST00000675680.1:c.391-998C>G
ENST00000676225.1:c.882-998C>G	ENSP00000501622.1:n.882-998C>G
ENST00000280699.13:c.690C>G
ENST00000280700.9:c.939C>G	ENSP00000280700.5:p.Ala313=
ENST00000308710.9:c.930C>G	ENSP00000307980.5:p.Ala310=
ENST00000396649.7:c.939C>G	ENSP00000379886.3:p.Ala313=
ENST00000417874.6:c.813C>G	ENSP00000389888.2:p.Ala271=
ENST00000428257.5:c.939C>G	ENSP00000387430.1:p.Ala313=
ENST00000493324.5:n.963C>G
NM_001145293.1:c.939C>G	NP_001138765.1:p.Ala313=
NM_001145294.1:c.813C>G	NP_001138766.1:p.Ala271=
NM_001145295.1:c.939C>G	NP_001138767.1:p.Ala313=
NM_018297.3:c.939C>G	NP_060767.2:p.Ala313=
XM_005265316.1:c.939C>G	XP_005265373.1:p.Ala313=
XM_005265317.1:c.939C>G	XP_005265374.1:p.Ala313=
XM_011533944.1:c.708C>G	XP_011532246.1:p.Ala236=
XM_011533945.1:c.939C>G	XP_011532247.1:p.Ala313=
XR_940470.1:n.992C>G
XR_940471.1:n.992C>G
XM_017006839.2:c.939C>G	XP_016862328.1:p.Ala313=
XR_001740200.2:n.992C>G
XR_002959548.1:n.992C>G
XR_940471.2:n.992C>G
NM_018297.4:c.939C>G MANE Select	NP_060767.2:p.Ala313=
NM_001145293.2:c.939C>G	NP_001138765.1:p.Ala313=
NM_001145294.2:c.813C>G	NP_001138766.1:p.Ala271=
NM_001145295.2:c.939C>G	NP_001138767.1:p.Ala313=