Canonical Allele Identifier: CA2260529124

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541027T= , CM000679.2:g.42541027T=	GRCh38
NC_000017.10:g.40693045T= , CM000679.1:g.40693045T=	GRCh37
NC_000017.9:g.37946571T=	NCBI36
NG_011552.1:g.10095T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.842T= MANE Select	ENSP00000225927.1:p.Leu281=
ENST00000225927.6:c.842T=	ENSP00000225927.1:p.Leu281=
ENST00000586516.5:c.444T=
ENST00000591587.1:c.360-2001T=	ENSP00000467836.1:n.360-2001T=
NM_000263.3:c.842T=	NP_000254.2:p.Leu281=
XM_006721920.2:c.23-12T=	XP_006721983.1:n.23-12T=
XM_011524840.1:c.23-2001T=	XP_011523142.1:n.23-2001T=
XM_017024687.1:c.23-12T=	XP_016880176.1:n.23-12T=
XM_024450771.1:c.899T=	XP_024306539.1:p.Leu300=
XM_024450772.1:c.23-2001T=	XP_024306540.1:n.23-2001T=
NM_000263.4:c.842T= MANE Select	NP_000254.2:p.Leu281=