Canonical Allele Identifier: CA2260529172
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541126T= , CM000679.2:g.42541126T= GRCh38
NC_000017.10:g.40693144T= , CM000679.1:g.40693144T= GRCh37
NC_000017.9:g.37946670T= NCBI36
NG_011552.1:g.10194T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.941T= MANE Select ENSP00000225927.1:p.Phe314=
ENST00000225927.6:c.941T= ENSP00000225927.1:p.Phe314=
ENST00000591587.1:c.360-1902T= ENSP00000467836.1:n.360-1902T=
ENST00000592454.1:c.36T=
NM_000263.3:c.941T= NP_000254.2:p.Phe314=
XM_006721920.2:c.110T= XP_006721983.1:p.Phe37=
XM_011524840.1:c.23-1902T= XP_011523142.1:n.23-1902T=
XM_017024687.1:c.110T= XP_016880176.1:p.Phe37=
XM_024450771.1:c.998T= XP_024306539.1:p.Phe333=
XM_024450772.1:c.23-1902T= XP_024306540.1:n.23-1902T=
NM_000263.4:c.941T= MANE Select NP_000254.2:p.Phe314=