Canonical Allele Identifier: CA2260530228
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543354C= , CM000679.2:g.42543354C= GRCh38
NC_000017.10:g.40695372C= , CM000679.1:g.40695372C= GRCh37
NC_000017.9:g.37948898C= NCBI36
NG_011552.1:g.12422C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1348C= MANE Select ENSP00000225927.1:p.Gln450=
ENST00000225927.6:c.1348C= ENSP00000225927.1:p.Gln450=
ENST00000591587.1:c.686C= ENSP00000467836.1:n.686C=
ENST00000592454.1:c.387C=
NM_000263.3:c.1348C= NP_000254.2:p.Gln450=
XM_006721920.2:c.517C= XP_006721983.1:p.Gln173=
XM_011524840.1:c.349C= XP_011523142.1:p.Gln117=
XM_017024687.1:c.517C= XP_016880176.1:p.Gln173=
XM_024450771.1:c.1405C= XP_024306539.1:p.Gln469=
XM_024450772.1:c.349C= XP_024306540.1:p.Gln117=
NM_000263.4:c.1348C= MANE Select NP_000254.2:p.Gln450=