Canonical Allele Identifier: CA2260530428

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543718T= , CM000679.2:g.42543718T=	GRCh38
NC_000017.10:g.40695736T= , CM000679.1:g.40695736T=	GRCh37
NC_000017.9:g.37949262T=	NCBI36
NG_011552.1:g.12786T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1712T= MANE Select	ENSP00000225927.1:p.Leu571=
ENST00000225927.6:c.1712T=	ENSP00000225927.1:p.Leu571=
ENST00000591587.1:c.1050T=	ENSP00000467836.1:n.1050T=
NM_000263.3:c.1712T=	NP_000254.2:p.Leu571=
XM_006721920.2:c.881T=	XP_006721983.1:p.Leu294=
XM_011524840.1:c.713T=	XP_011523142.1:p.Leu238=
XM_017024687.1:c.881T=	XP_016880176.1:p.Leu294=
XM_024450771.1:c.1769T=	XP_024306539.1:p.Leu590=
XM_024450772.1:c.713T=	XP_024306540.1:p.Leu238=
NM_000263.4:c.1712T= MANE Select	NP_000254.2:p.Leu571=