Canonical Allele Identifier: CA2260529184
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541160C= , CM000679.2:g.42541160C= GRCh38
NC_000017.10:g.40693178C= , CM000679.1:g.40693178C= GRCh37
NC_000017.9:g.37946704C= NCBI36
NG_011552.1:g.10228C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.975C= MANE Select ENSP00000225927.1:p.Ser325=
ENST00000225927.6:c.975C= ENSP00000225927.1:p.Ser325=
ENST00000591587.1:c.360-1868C= ENSP00000467836.1:n.360-1868C=
ENST00000592454.1:c.70C=
NM_000263.3:c.975C= NP_000254.2:p.Ser325=
XM_006721920.2:c.144C= XP_006721983.1:p.Ser48=
XM_011524840.1:c.23-1868C= XP_011523142.1:n.23-1868C=
XM_017024687.1:c.144C= XP_016880176.1:p.Ser48=
XM_024450771.1:c.1032C= XP_024306539.1:p.Ser344=
XM_024450772.1:c.23-1868C= XP_024306540.1:n.23-1868C=
NM_000263.4:c.975C= MANE Select NP_000254.2:p.Ser325=