Canonical Allele Identifier: CA2260530434
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543730A= , CM000679.2:g.42543730A= GRCh38
NC_000017.10:g.40695748A= , CM000679.1:g.40695748A= GRCh37
NC_000017.9:g.37949274A= NCBI36
NG_011552.1:g.12798A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1724A= MANE Select ENSP00000225927.1:p.Tyr575=
ENST00000225927.6:c.1724A= ENSP00000225927.1:p.Tyr575=
ENST00000591587.1:c.1062A= ENSP00000467836.1:n.1062A=
NM_000263.3:c.1724A= NP_000254.2:p.Tyr575=
XM_006721920.2:c.893A= XP_006721983.1:p.Tyr298=
XM_011524840.1:c.725A= XP_011523142.1:p.Tyr242=
XM_017024687.1:c.893A= XP_016880176.1:p.Tyr298=
XM_024450771.1:c.1781A= XP_024306539.1:p.Tyr594=
XM_024450772.1:c.725A= XP_024306540.1:p.Tyr242=
NM_000263.4:c.1724A= MANE Select NP_000254.2:p.Tyr575=