Canonical Allele Identifier: CA115054
Gene: NAGLU HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1571
ClinVar RCV Id: RCV000001637
dbSNP Id: rs104894596

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543450C>T , CM000679.2:g.42543450C>T GRCh38
NC_000017.10:g.40695468C>T , CM000679.1:g.40695468C>T GRCh37
NC_000017.9:g.37948994C>T NCBI36
NG_011552.1:g.12518C>T

Transcript Alleles

HGVS Amino-acid change
NM_000263.3:c.1444C>T VV NP_000254.2:p.Arg482Trp
XM_006721920.2:c.613C>T XP_006721983.1:p.Arg205Trp
XM_011524840.1:c.445C>T XP_011523142.1:p.Arg149Trp
XM_017024687.1:c.613C>T XP_016880176.1:p.Arg205Trp
XM_024450771.1:c.1501C>T XP_024306539.1:p.Arg501Trp
XM_024450772.1:c.445C>T XP_024306540.1:p.Arg149Trp
NM_000263.4:c.1444C>T VV MANE Preferred
ENST00000225927.6:c.1444C>T ENSP00000225927.1:p.Arg482Trp
ENST00000591587.1:n.782C>T ENSP00000467836.1:p.=
ENST00000592454.1:n.483C>T