Canonical Allele Identifier: CA2260530545
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543960G= , CM000679.2:g.42543960G= GRCh38
NC_000017.10:g.40695978G= , CM000679.1:g.40695978G= GRCh37
NC_000017.9:g.37949504G= NCBI36
NG_011552.1:g.13028G=

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1954G= MANE Select ENSP00000225927.1:p.Glu652=
ENST00000225927.6:c.1954G= ENSP00000225927.1:p.Glu652=
ENST00000591587.1:c.1292G= ENSP00000467836.1:n.1292G=
NM_000263.3:c.1954G= NP_000254.2:p.Glu652=
XM_006721920.2:c.1123G= XP_006721983.1:p.Glu375=
XM_011524840.1:c.955G= XP_011523142.1:p.Glu319=
XM_017024687.1:c.1123G= XP_016880176.1:p.Glu375=
XM_024450771.1:c.2011G= XP_024306539.1:p.Glu671=
XM_024450772.1:c.955G= XP_024306540.1:p.Glu319=
NM_000263.4:c.1954G= MANE Select NP_000254.2:p.Glu652=