Canonical Allele Identifier: CA8577062

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543629G>A , CM000679.2:g.42543629G>A	GRCh38
NC_000017.10:g.40695647G>A , CM000679.1:g.40695647G>A	GRCh37
NC_000017.9:g.37949173G>A	NCBI36
NG_011552.1:g.12697G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1623G>A MANE Select	NP_000254.2:p.Arg541=
ENST00000225927.7:c.1623G>A MANE Select	ENSP00000225927.1:p.Arg541=
NM_000263.3:c.1623G>A	NP_000254.2:p.Arg541=
ENST00000225927.6:c.1623G>A	ENSP00000225927.1:p.Arg541=
ENST00000591587.1:c.961G>A	ENSP00000467836.1:n.961G>A
XM_006721920.2:c.792G>A	XP_006721983.1:p.Arg264=
XM_011524840.1:c.624G>A	XP_011523142.1:p.Arg208=
XM_017024687.1:c.792G>A	XP_016880176.1:p.Arg264=
XM_024450771.1:c.1680G>A	XP_024306539.1:p.Arg560=
XM_024450772.1:c.624G>A	XP_024306540.1:p.Arg208=