Canonical Allele Identifier: CA115055
Gene: NAGLU HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1572
ClinVar RCV Id: RCV000001638
dbSNP Id: rs104894601

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538691C>T , CM000679.2:g.42538691C>T GRCh38
NC_000017.10:g.40690709C>T , CM000679.1:g.40690709C>T GRCh37
NC_000017.9:g.37944235C>T NCBI36
NG_011552.1:g.7759C>T

Transcript Alleles

HGVS Amino-acid change
NM_000263.3:c.700C>T VV NP_000254.2:p.Arg234Cys
XM_006721920.2:c.-43C>T XP_006721983.1:p.=
XM_011524840.1:c.-43C>T XP_011523142.1:p.=
XM_017024687.1:c.-43C>T XP_016880176.1:p.=
XM_024450771.1:c.757C>T XP_024306539.1:p.Arg253Cys
XM_024450772.1:c.-43C>T XP_024306540.1:p.=
NM_000263.4:c.700C>T VV MANE Preferred
ENST00000225927.6:c.700C>T ENSP00000225927.1:p.Arg234Cys
ENST00000586516.5:n.302C>T
ENST00000591587.1:n.295C>T ENSP00000467836.1:p.Arg99Cys