Canonical Allele Identifier: CA2260526839
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536600C= , CM000679.2:g.42536600C= GRCh38
NC_000017.10:g.40688618C= , CM000679.1:g.40688618C= GRCh37
NC_000017.9:g.37942144C= NCBI36
NG_011552.1:g.5668C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.328C= MANE Select ENSP00000225927.1:p.Leu110=
ENST00000225927.6:c.328C= ENSP00000225927.1:p.Leu110=
ENST00000586516.5:c.78C=
ENST00000591587.1:c.71C= ENSP00000467836.1:p.Pro24=
NM_000263.3:c.328C= NP_000254.2:p.Leu110=
XM_006721920.2:c.-415C= XP_006721983.1:n.-415C=
XM_011524840.1:c.-415C= XP_011523142.1:n.-415C=
XM_024450771.1:c.328C= XP_024306539.1:p.Leu110=
NM_000263.4:c.328C= MANE Select NP_000254.2:p.Leu110=