Canonical Allele Identifier: CA2260530465
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543802C= , CM000679.2:g.42543802C= GRCh38
NC_000017.10:g.40695820C= , CM000679.1:g.40695820C= GRCh37
NC_000017.9:g.37949346C= NCBI36
NG_011552.1:g.12870C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1796C= MANE Select ENSP00000225927.1:p.Ala599=
ENST00000225927.6:c.1796C= ENSP00000225927.1:p.Ala599=
ENST00000591587.1:c.1134C= ENSP00000467836.1:n.1134C=
NM_000263.3:c.1796C= NP_000254.2:p.Ala599=
XM_006721920.2:c.965C= XP_006721983.1:p.Ala322=
XM_011524840.1:c.797C= XP_011523142.1:p.Ala266=
XM_017024687.1:c.965C= XP_016880176.1:p.Ala322=
XM_024450771.1:c.1853C= XP_024306539.1:p.Ala618=
XM_024450772.1:c.797C= XP_024306540.1:p.Ala266=
NM_000263.4:c.1796C= MANE Select NP_000254.2:p.Ala599=