Canonical Allele Identifier: CA2260530584

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544043G= , CM000679.2:g.42544043G=	GRCh38
NC_000017.10:g.40696061G= , CM000679.1:g.40696061G=	GRCh37
NC_000017.9:g.37949587G=	NCBI36
NG_011552.1:g.13111G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2037G= MANE Select	ENSP00000225927.1:p.Leu679=
ENST00000225927.6:c.2037G=	ENSP00000225927.1:p.Leu679=
ENST00000591587.1:c.1375G=	ENSP00000467836.1:n.1375G=
NM_000263.3:c.2037G=	NP_000254.2:p.Leu679=
XM_006721920.2:c.1206G=	XP_006721983.1:p.Leu402=
XM_011524840.1:c.1038G=	XP_011523142.1:p.Leu346=
XM_017024687.1:c.1206G=	XP_016880176.1:p.Leu402=
XM_024450771.1:c.2094G=	XP_024306539.1:p.Leu698=
XM_024450772.1:c.1038G=	XP_024306540.1:p.Leu346=
NM_000263.4:c.2037G= MANE Select	NP_000254.2:p.Leu679=