Canonical Allele Identifier: CA8576884

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541018C>T , CM000679.2:g.42541018C>T	GRCh38
NC_000017.10:g.40693036C>T , CM000679.1:g.40693036C>T	GRCh37
NC_000017.9:g.37946562C>T	NCBI36
NG_011552.1:g.10086C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.833C>T MANE Select	NP_000254.2:p.Ser278Phe
ENST00000225927.7:c.833C>T MANE Select	ENSP00000225927.1:p.Ser278Phe
NM_000263.3:c.833C>T	NP_000254.2:p.Ser278Phe
ENST00000225927.6:c.833C>T	ENSP00000225927.1:p.Ser278Phe
ENST00000586516.5:c.435C>T
ENST00000591587.1:c.360-2010C>T	ENSP00000467836.1:n.360-2010C>T
XM_006721920.2:c.23-21C>T	XP_006721983.1:n.23-21C>T
XM_011524840.1:c.23-2010C>T	XP_011523142.1:n.23-2010C>T
XM_017024687.1:c.23-21C>T	XP_016880176.1:n.23-21C>T
XM_024450771.1:c.890C>T	XP_024306539.1:p.Ser297Phe
XM_024450772.1:c.23-2010C>T	XP_024306540.1:n.23-2010C>T