Canonical Allele Identifier: CA399601862

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543324G>C , CM000679.2:g.42543324G>C	GRCh38
NC_000017.10:g.40695342G>C , CM000679.1:g.40695342G>C	GRCh37
NC_000017.9:g.37948868G>C	NCBI36
NG_011552.1:g.12392G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1318G>C MANE Select	NP_000254.2:p.Gly440Arg
ENST00000225927.7:c.1318G>C MANE Select	ENSP00000225927.1:p.Gly440Arg
NM_000263.3:c.1318G>C	NP_000254.2:p.Gly440Arg
ENST00000225927.6:c.1318G>C	ENSP00000225927.1:p.Gly440Arg
ENST00000591587.1:c.656G>C	ENSP00000467836.1:n.656G>C
ENST00000592454.1:c.357G>C
XM_006721920.2:c.487G>C	XP_006721983.1:p.Gly163Arg
XM_011524840.1:c.319G>C	XP_011523142.1:p.Gly107Arg
XM_017024687.1:c.487G>C	XP_016880176.1:p.Gly163Arg
XM_024450771.1:c.1375G>C	XP_024306539.1:p.Gly459Arg
XM_024450772.1:c.319G>C	XP_024306540.1:p.Gly107Arg