Canonical Allele Identifier: CA399601505

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543230C>A , CM000679.2:g.42543230C>A	GRCh38
NC_000017.10:g.40695248C>A , CM000679.1:g.40695248C>A	GRCh37
NC_000017.9:g.37948774C>A	NCBI36
NG_011552.1:g.12298C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1224C>A MANE Select	NP_000254.2:p.His408Gln
ENST00000225927.7:c.1224C>A MANE Select	ENSP00000225927.1:p.His408Gln
NM_000263.3:c.1224C>A	NP_000254.2:p.His408Gln
ENST00000225927.6:c.1224C>A	ENSP00000225927.1:p.His408Gln
ENST00000591587.1:c.562C>A	ENSP00000467836.1:n.562C>A
ENST00000592454.1:c.263C>A
XM_006721920.2:c.393C>A	XP_006721983.1:p.His131Gln
XM_011524840.1:c.225C>A	XP_011523142.1:p.His75Gln
XM_017024687.1:c.393C>A	XP_016880176.1:p.His131Gln
XM_024450771.1:c.1281C>A	XP_024306539.1:p.His427Gln
XM_024450772.1:c.225C>A	XP_024306540.1:p.His75Gln