Canonical Allele Identifier: CA2260530409

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543687C= , CM000679.2:g.42543687C=	GRCh38
NC_000017.10:g.40695705C= , CM000679.1:g.40695705C=	GRCh37
NC_000017.9:g.37949231C=	NCBI36
NG_011552.1:g.12755C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1681C= MANE Select	ENSP00000225927.1:p.Leu561=
ENST00000225927.6:c.1681C=	ENSP00000225927.1:p.Leu561=
ENST00000591587.1:c.1019C=	ENSP00000467836.1:n.1019C=
NM_000263.3:c.1681C=	NP_000254.2:p.Leu561=
XM_006721920.2:c.850C=	XP_006721983.1:p.Leu284=
XM_011524840.1:c.682C=	XP_011523142.1:p.Leu228=
XM_017024687.1:c.850C=	XP_016880176.1:p.Leu284=
XM_024450771.1:c.1738C=	XP_024306539.1:p.Leu580=
XM_024450772.1:c.682C=	XP_024306540.1:p.Leu228=
NM_000263.4:c.1681C= MANE Select	NP_000254.2:p.Leu561=