Canonical Allele Identifier: CA2260530586

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544049G= , CM000679.2:g.42544049G=	GRCh38
NC_000017.10:g.40696067G= , CM000679.1:g.40696067G=	GRCh37
NC_000017.9:g.37949593G=	NCBI36
NG_011552.1:g.13117G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2043G= MANE Select	ENSP00000225927.1:p.Ala681=
ENST00000225927.6:c.2043G=	ENSP00000225927.1:p.Ala681=
ENST00000591587.1:c.1381G=	ENSP00000467836.1:n.1381G=
NM_000263.3:c.2043G=	NP_000254.2:p.Ala681=
XM_006721920.2:c.1212G=	XP_006721983.1:p.Ala404=
XM_011524840.1:c.1044G=	XP_011523142.1:p.Ala348=
XM_017024687.1:c.1212G=	XP_016880176.1:p.Ala404=
XM_024450771.1:c.2100G=	XP_024306539.1:p.Ala700=
XM_024450772.1:c.1044G=	XP_024306540.1:p.Ala348=
NM_000263.4:c.2043G= MANE Select	NP_000254.2:p.Ala681=