Canonical Allele Identifier: CA250027
Gene: NAGLU HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1563
ClinVar RCV Id: RCV000001629
dbSNP Id: rs104894593

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543934G>A , CM000679.2:g.42543934G>A GRCh38
NC_000017.10:g.40695952G>A , CM000679.1:g.40695952G>A GRCh37
NC_000017.9:g.37949478G>A NCBI36
NG_011552.1:g.13002G>A

Transcript Alleles

HGVS Amino-acid change
NM_000263.3:c.1928G>A VV NP_000254.2:p.Arg643His
XM_006721920.2:c.1097G>A XP_006721983.1:p.Arg366His
XM_011524840.1:c.929G>A XP_011523142.1:p.Arg310His
XM_017024687.1:c.1097G>A XP_016880176.1:p.Arg366His
XM_024450771.1:c.1985G>A XP_024306539.1:p.Arg662His
XM_024450772.1:c.929G>A XP_024306540.1:p.Arg310His
ENST00000225927.6:c.1928G>A ENSP00000225927.1:p.Arg643His
ENST00000591587.1:n.1266G>A ENSP00000467836.1:p.=