Canonical Allele Identifier: CA399600298

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541141C>T , CM000679.2:g.42541141C>T	GRCh38
NC_000017.10:g.40693159C>T , CM000679.1:g.40693159C>T	GRCh37
NC_000017.9:g.37946685C>T	NCBI36
NG_011552.1:g.10209C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.956C>T MANE Select	NP_000254.2:p.Pro319Leu
ENST00000225927.7:c.956C>T MANE Select	ENSP00000225927.1:p.Pro319Leu
NM_000263.3:c.956C>T	NP_000254.2:p.Pro319Leu
ENST00000225927.6:c.956C>T	ENSP00000225927.1:p.Pro319Leu
ENST00000591587.1:c.360-1887C>T	ENSP00000467836.1:n.360-1887C>T
ENST00000592454.1:c.51C>T
XM_006721920.2:c.125C>T	XP_006721983.1:p.Pro42Leu
XM_011524840.1:c.23-1887C>T	XP_011523142.1:n.23-1887C>T
XM_017024687.1:c.125C>T	XP_016880176.1:p.Pro42Leu
XM_024450771.1:c.1013C>T	XP_024306539.1:p.Pro338Leu
XM_024450772.1:c.23-1887C>T	XP_024306540.1:n.23-1887C>T