Canonical Allele Identifier: CA2260529182
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541150C= , CM000679.2:g.42541150C= GRCh38
NC_000017.10:g.40693168C= , CM000679.1:g.40693168C= GRCh37
NC_000017.9:g.37946694C= NCBI36
NG_011552.1:g.10218C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.965C= MANE Select ENSP00000225927.1:p.Ser322=
ENST00000225927.6:c.965C= ENSP00000225927.1:p.Ser322=
ENST00000591587.1:c.360-1878C= ENSP00000467836.1:n.360-1878C=
ENST00000592454.1:c.60C=
NM_000263.3:c.965C= NP_000254.2:p.Ser322=
XM_006721920.2:c.134C= XP_006721983.1:p.Ser45=
XM_011524840.1:c.23-1878C= XP_011523142.1:n.23-1878C=
XM_017024687.1:c.134C= XP_016880176.1:p.Ser45=
XM_024450771.1:c.1022C= XP_024306539.1:p.Ser341=
XM_024450772.1:c.23-1878C= XP_024306540.1:n.23-1878C=
NM_000263.4:c.965C= MANE Select NP_000254.2:p.Ser322=