Canonical Allele Identifier: CA2260529183

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541154G= , CM000679.2:g.42541154G=	GRCh38
NC_000017.10:g.40693172G= , CM000679.1:g.40693172G=	GRCh37
NC_000017.9:g.37946698G=	NCBI36
NG_011552.1:g.10222G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.969G= MANE Select	ENSP00000225927.1:p.Glu323=
ENST00000225927.6:c.969G=	ENSP00000225927.1:p.Glu323=
ENST00000591587.1:c.360-1874G=	ENSP00000467836.1:n.360-1874G=
ENST00000592454.1:c.64G=
NM_000263.3:c.969G=	NP_000254.2:p.Glu323=
XM_006721920.2:c.138G=	XP_006721983.1:p.Glu46=
XM_011524840.1:c.23-1874G=	XP_011523142.1:n.23-1874G=
XM_017024687.1:c.138G=	XP_016880176.1:p.Glu46=
XM_024450771.1:c.1026G=	XP_024306539.1:p.Glu342=
XM_024450772.1:c.23-1874G=	XP_024306540.1:n.23-1874G=
NM_000263.4:c.969G= MANE Select	NP_000254.2:p.Glu323=