Canonical Allele Identifier: CA2260530546
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543962A= , CM000679.2:g.42543962A= GRCh38
NC_000017.10:g.40695980A= , CM000679.1:g.40695980A= GRCh37
NC_000017.9:g.37949506A= NCBI36
NG_011552.1:g.13030A=

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1956A= MANE Select ENSP00000225927.1:p.Glu652=
ENST00000225927.6:c.1956A= ENSP00000225927.1:p.Glu652=
ENST00000591587.1:c.1294A= ENSP00000467836.1:n.1294A=
NM_000263.3:c.1956A= NP_000254.2:p.Glu652=
XM_006721920.2:c.1125A= XP_006721983.1:p.Glu375=
XM_011524840.1:c.957A= XP_011523142.1:p.Glu319=
XM_017024687.1:c.1125A= XP_016880176.1:p.Glu375=
XM_024450771.1:c.2013A= XP_024306539.1:p.Glu671=
XM_024450772.1:c.957A= XP_024306540.1:p.Glu319=
NM_000263.4:c.1956A= MANE Select NP_000254.2:p.Glu652=