Canonical Allele Identifier: CA2260530452

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543777C= , CM000679.2:g.42543777C=	GRCh38
NC_000017.10:g.40695795C= , CM000679.1:g.40695795C=	GRCh37
NC_000017.9:g.37949321C=	NCBI36
NG_011552.1:g.12845C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1771C= MANE Select	ENSP00000225927.1:p.Leu591=
ENST00000225927.6:c.1771C=	ENSP00000225927.1:p.Leu591=
ENST00000591587.1:c.1109C=	ENSP00000467836.1:n.1109C=
NM_000263.3:c.1771C=	NP_000254.2:p.Leu591=
XM_006721920.2:c.940C=	XP_006721983.1:p.Leu314=
XM_011524840.1:c.772C=	XP_011523142.1:p.Leu258=
XM_017024687.1:c.940C=	XP_016880176.1:p.Leu314=
XM_024450771.1:c.1828C=	XP_024306539.1:p.Leu610=
XM_024450772.1:c.772C=	XP_024306540.1:p.Leu258=
NM_000263.4:c.1771C= MANE Select	NP_000254.2:p.Leu591=