Canonical Allele Identifier: CA2260530383
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543647T= , CM000679.2:g.42543647T= GRCh38
NC_000017.10:g.40695665T= , CM000679.1:g.40695665T= GRCh37
NC_000017.9:g.37949191T= NCBI36
NG_011552.1:g.12715T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1641T= MANE Select ENSP00000225927.1:p.Ala547=
ENST00000225927.6:c.1641T= ENSP00000225927.1:p.Ala547=
ENST00000591587.1:c.979T= ENSP00000467836.1:n.979T=
NM_000263.3:c.1641T= NP_000254.2:p.Ala547=
XM_006721920.2:c.810T= XP_006721983.1:p.Ala270=
XM_011524840.1:c.642T= XP_011523142.1:p.Ala214=
XM_017024687.1:c.810T= XP_016880176.1:p.Ala270=
XM_024450771.1:c.1698T= XP_024306539.1:p.Ala566=
XM_024450772.1:c.642T= XP_024306540.1:p.Ala214=
NM_000263.4:c.1641T= MANE Select NP_000254.2:p.Ala547=