Canonical Allele Identifier: CA399598085

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537445G>A , CM000679.2:g.42537445G>A	GRCh38
NC_000017.10:g.40689463G>A , CM000679.1:g.40689463G>A	GRCh37
NC_000017.9:g.37942989G>A	NCBI36
NG_011552.1:g.6513G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.431G>A MANE Select	NP_000254.2:p.Trp144Ter
ENST00000225927.7:c.431G>A MANE Select	ENSP00000225927.1:p.Trp144Ter
NM_000263.3:c.431G>A	NP_000254.2:p.Trp144Ter
ENST00000225927.6:c.431G>A	ENSP00000225927.1:p.Trp144Ter
ENST00000586516.5:c.133+790G>A
ENST00000590358.1:c.119G>A	ENSP00000466892.1:p.Trp40Ter
ENST00000591587.1:c.126+790G>A	ENSP00000467836.1:n.126+790G>A
XM_006721920.2:c.-312G>A	XP_006721983.1:n.-312G>A
XM_011524840.1:c.-312G>A	XP_011523142.1:n.-312G>A
XM_017024687.1:c.-312G>A	XP_016880176.1:n.-312G>A
XM_024450771.1:c.488G>A	XP_024306539.1:p.Trp163Ter
XM_024450772.1:c.-312G>A	XP_024306540.1:n.-312G>A