Canonical Allele Identifier: CA2260529199
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541183C= , CM000679.2:g.42541183C= GRCh38
NC_000017.10:g.40693201C= , CM000679.1:g.40693201C= GRCh37
NC_000017.9:g.37946727C= NCBI36
NG_011552.1:g.10251C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.998C= MANE Select ENSP00000225927.1:p.Ala333=
ENST00000225927.6:c.998C= ENSP00000225927.1:p.Ala333=
ENST00000591587.1:c.360-1845C= ENSP00000467836.1:n.360-1845C=
ENST00000592454.1:c.93C=
NM_000263.3:c.998C= NP_000254.2:p.Ala333=
XM_006721920.2:c.167C= XP_006721983.1:p.Ala56=
XM_011524840.1:c.23-1845C= XP_011523142.1:n.23-1845C=
XM_017024687.1:c.167C= XP_016880176.1:p.Ala56=
XM_024450771.1:c.1055C= XP_024306539.1:p.Ala352=
XM_024450772.1:c.23-1845C= XP_024306540.1:n.23-1845C=
NM_000263.4:c.998C= MANE Select NP_000254.2:p.Ala333=