Canonical Allele Identifier: CA8577017

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543441G>A , CM000679.2:g.42543441G>A	GRCh38
NC_000017.10:g.40695459G>A , CM000679.1:g.40695459G>A	GRCh37
NC_000017.9:g.37948985G>A	NCBI36
NG_011552.1:g.12509G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1435G>A MANE Select	NP_000254.2:p.Ala479Thr
ENST00000225927.7:c.1435G>A MANE Select	ENSP00000225927.1:p.Ala479Thr
NM_000263.3:c.1435G>A	NP_000254.2:p.Ala479Thr
ENST00000225927.6:c.1435G>A	ENSP00000225927.1:p.Ala479Thr
ENST00000591587.1:c.773G>A	ENSP00000467836.1:n.773G>A
ENST00000592454.1:c.474G>A
XM_006721920.2:c.604G>A	XP_006721983.1:p.Ala202Thr
XM_011524840.1:c.436G>A	XP_011523142.1:p.Ala146Thr
XM_017024687.1:c.604G>A	XP_016880176.1:p.Ala202Thr
XM_024450771.1:c.1492G>A	XP_024306539.1:p.Ala498Thr
XM_024450772.1:c.436G>A	XP_024306540.1:p.Ala146Thr