Canonical Allele Identifier: CA2260530476
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543828G= , CM000679.2:g.42543828G= GRCh38
NC_000017.10:g.40695846G= , CM000679.1:g.40695846G= GRCh37
NC_000017.9:g.37949372G= NCBI36
NG_011552.1:g.12896G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1822G= MANE Select ENSP00000225927.1:p.Glu608=
ENST00000225927.6:c.1822G= ENSP00000225927.1:p.Glu608=
ENST00000591587.1:c.1160G= ENSP00000467836.1:n.1160G=
NM_000263.3:c.1822G= NP_000254.2:p.Glu608=
XM_006721920.2:c.991G= XP_006721983.1:p.Glu331=
XM_011524840.1:c.823G= XP_011523142.1:p.Glu275=
XM_017024687.1:c.991G= XP_016880176.1:p.Glu331=
XM_024450771.1:c.1879G= XP_024306539.1:p.Glu627=
XM_024450772.1:c.823G= XP_024306540.1:p.Glu275=
NM_000263.4:c.1822G= MANE Select NP_000254.2:p.Glu608=