Canonical Allele Identifier: CA2260529176
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541137C= , CM000679.2:g.42541137C= GRCh38
NC_000017.10:g.40693155C= , CM000679.1:g.40693155C= GRCh37
NC_000017.9:g.37946681C= NCBI36
NG_011552.1:g.10205C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.952C= MANE Select ENSP00000225927.1:p.Gln318=
ENST00000225927.6:c.952C= ENSP00000225927.1:p.Gln318=
ENST00000591587.1:c.360-1891C= ENSP00000467836.1:n.360-1891C=
ENST00000592454.1:c.47C=
NM_000263.3:c.952C= NP_000254.2:p.Gln318=
XM_006721920.2:c.121C= XP_006721983.1:p.Gln41=
XM_011524840.1:c.23-1891C= XP_011523142.1:n.23-1891C=
XM_017024687.1:c.121C= XP_016880176.1:p.Gln41=
XM_024450771.1:c.1009C= XP_024306539.1:p.Gln337=
XM_024450772.1:c.23-1891C= XP_024306540.1:n.23-1891C=
NM_000263.4:c.952C= MANE Select NP_000254.2:p.Gln318=