Canonical Allele Identifier: CA399600113

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541059G>A , CM000679.2:g.42541059G>A	GRCh38
NC_000017.10:g.40693077G>A , CM000679.1:g.40693077G>A	GRCh37
NC_000017.9:g.37946603G>A	NCBI36
NG_011552.1:g.10127G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.874G>A MANE Select	NP_000254.2:p.Gly292Arg
ENST00000225927.7:c.874G>A MANE Select	ENSP00000225927.1:p.Gly292Arg
NM_000263.3:c.874G>A	NP_000254.2:p.Gly292Arg
ENST00000225927.6:c.874G>A	ENSP00000225927.1:p.Gly292Arg
ENST00000586516.5:c.476G>A
ENST00000591587.1:c.360-1969G>A	ENSP00000467836.1:n.360-1969G>A
XM_006721920.2:c.43G>A	XP_006721983.1:p.Gly15Arg
XM_011524840.1:c.23-1969G>A	XP_011523142.1:n.23-1969G>A
XM_017024687.1:c.43G>A	XP_016880176.1:p.Gly15Arg
XM_024450771.1:c.931G>A	XP_024306539.1:p.Gly311Arg
XM_024450772.1:c.23-1969G>A	XP_024306540.1:n.23-1969G>A