Canonical Allele Identifier: CA2260526813

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536549C= , CM000679.2:g.42536549C=	GRCh38
NC_000017.10:g.40688567C= , CM000679.1:g.40688567C=	GRCh37
NC_000017.9:g.37942093C=	NCBI36
NG_011552.1:g.5617C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.277C= MANE Select	ENSP00000225927.1:p.Leu93=
ENST00000225927.6:c.277C=	ENSP00000225927.1:p.Leu93=
ENST00000586516.5:c.27C=
ENST00000591587.1:c.20C=	ENSP00000467836.1:p.Pro7=
NM_000263.3:c.277C=	NP_000254.2:p.Leu93=
XM_006721920.2:c.-466C=	XP_006721983.1:n.-466C=
XM_011524840.1:c.-466C=	XP_011523142.1:n.-466C=
XM_024450771.1:c.277C=	XP_024306539.1:p.Leu93=
NM_000263.4:c.277C= MANE Select	NP_000254.2:p.Leu93=