Canonical Allele Identifier: CA399601442

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543213A>T , CM000679.2:g.42543213A>T	GRCh38
NC_000017.10:g.40695231A>T , CM000679.1:g.40695231A>T	GRCh37
NC_000017.9:g.37948757A>T	NCBI36
NG_011552.1:g.12281A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1207A>T MANE Select	NP_000254.2:p.Ile403Phe
ENST00000225927.7:c.1207A>T MANE Select	ENSP00000225927.1:p.Ile403Phe
NM_000263.3:c.1207A>T	NP_000254.2:p.Ile403Phe
ENST00000225927.6:c.1207A>T	ENSP00000225927.1:p.Ile403Phe
ENST00000591587.1:c.545A>T	ENSP00000467836.1:n.545A>T
ENST00000592454.1:c.246A>T
XM_006721920.2:c.376A>T	XP_006721983.1:p.Ile126Phe
XM_011524840.1:c.208A>T	XP_011523142.1:p.Ile70Phe
XM_017024687.1:c.376A>T	XP_016880176.1:p.Ile126Phe
XM_024450771.1:c.1264A>T	XP_024306539.1:p.Ile422Phe
XM_024450772.1:c.208A>T	XP_024306540.1:p.Ile70Phe