Canonical Allele Identifier: CA2260530262
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543422A= , CM000679.2:g.42543422A= GRCh38
NC_000017.10:g.40695440A= , CM000679.1:g.40695440A= GRCh37
NC_000017.9:g.37948966A= NCBI36
NG_011552.1:g.12490A=

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1416A= MANE Select ENSP00000225927.1:p.Ala472=
ENST00000225927.6:c.1416A= ENSP00000225927.1:p.Ala472=
ENST00000591587.1:c.754A= ENSP00000467836.1:n.754A=
ENST00000592454.1:c.455A=
NM_000263.3:c.1416A= NP_000254.2:p.Ala472=
XM_006721920.2:c.585A= XP_006721983.1:p.Ala195=
XM_011524840.1:c.417A= XP_011523142.1:p.Ala139=
XM_017024687.1:c.585A= XP_016880176.1:p.Ala195=
XM_024450771.1:c.1473A= XP_024306539.1:p.Ala491=
XM_024450772.1:c.417A= XP_024306540.1:p.Ala139=
NM_000263.4:c.1416A= MANE Select NP_000254.2:p.Ala472=