Canonical Allele Identifier: CA2260529189
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541170G= , CM000679.2:g.42541170G= GRCh38
NC_000017.10:g.40693188G= , CM000679.1:g.40693188G= GRCh37
NC_000017.9:g.37946714G= NCBI36
NG_011552.1:g.10238G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.985G= MANE Select ENSP00000225927.1:p.Ala329=
ENST00000225927.6:c.985G= ENSP00000225927.1:p.Ala329=
ENST00000591587.1:c.360-1858G= ENSP00000467836.1:n.360-1858G=
ENST00000592454.1:c.80G=
NM_000263.3:c.985G= NP_000254.2:p.Ala329=
XM_006721920.2:c.154G= XP_006721983.1:p.Ala52=
XM_011524840.1:c.23-1858G= XP_011523142.1:n.23-1858G=
XM_017024687.1:c.154G= XP_016880176.1:p.Ala52=
XM_024450771.1:c.1042G= XP_024306539.1:p.Ala348=
XM_024450772.1:c.23-1858G= XP_024306540.1:n.23-1858G=
NM_000263.4:c.985G= MANE Select NP_000254.2:p.Ala329=