Canonical Allele Identifier: CA2260529173
Community Standard Title: NM_000263.4(NAGLU):c.942C= (p.Phe314=)
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541127C= , CM000679.2:g.42541127C= GRCh38
NC_000017.10:g.40693145C= , CM000679.1:g.40693145C= GRCh37
NC_000017.9:g.37946671C= NCBI36
NG_011552.1:g.10195C=

Transcript Alleles

HGVS Amino-acid Change
NM_000263.4:c.942C= MANE Select NP_000254.2:p.Phe314=
ENST00000225927.7:c.942C= MANE Select ENSP00000225927.1:p.Phe314=
NM_000263.3:c.942C= NP_000254.2:p.Phe314=
ENST00000225927.6:c.942C= ENSP00000225927.1:p.Phe314=
ENST00000591587.1:c.360-1901C= ENSP00000467836.1:n.360-1901C=
ENST00000592454.1:c.37C=
XM_006721920.2:c.111C= XP_006721983.1:p.Phe37=
XM_011524840.1:c.23-1901C= XP_011523142.1:n.23-1901C=
XM_017024687.1:c.111C= XP_016880176.1:p.Phe37=
XM_024450771.1:c.999C= XP_024306539.1:p.Phe333=
XM_024450772.1:c.23-1901C= XP_024306540.1:n.23-1901C=