Canonical Allele Identifier: CA2260529190
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541174C= , CM000679.2:g.42541174C= GRCh38
NC_000017.10:g.40693192C= , CM000679.1:g.40693192C= GRCh37
NC_000017.9:g.37946718C= NCBI36
NG_011552.1:g.10242C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.989C= MANE Select ENSP00000225927.1:p.Ala330=
ENST00000225927.6:c.989C= ENSP00000225927.1:p.Ala330=
ENST00000591587.1:c.360-1854C= ENSP00000467836.1:n.360-1854C=
ENST00000592454.1:c.84C=
NM_000263.3:c.989C= NP_000254.2:p.Ala330=
XM_006721920.2:c.158C= XP_006721983.1:p.Ala53=
XM_011524840.1:c.23-1854C= XP_011523142.1:n.23-1854C=
XM_017024687.1:c.158C= XP_016880176.1:p.Ala53=
XM_024450771.1:c.1046C= XP_024306539.1:p.Ala349=
XM_024450772.1:c.23-1854C= XP_024306540.1:n.23-1854C=
NM_000263.4:c.989C= MANE Select NP_000254.2:p.Ala330=