Canonical Allele Identifier: CA115048
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1565
dbSNP Id: rs104894594

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543933C>T , CM000679.2:g.42543933C>T GRCh38
NC_000017.10:g.40695951C>T , CM000679.1:g.40695951C>T GRCh37
NC_000017.9:g.37949477C>T NCBI36
NG_011552.1:g.13001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1927C>T MANE Select ENSP00000225927.1:p.Arg643Cys
ENST00000225927.6:c.1927C>T ENSP00000225927.1:p.Arg643Cys
ENST00000591587.1:c.1265C>T ENSP00000467836.1:n.1265C>T
NM_000263.3:c.1927C>T NP_000254.2:p.Arg643Cys
XM_006721920.2:c.1096C>T XP_006721983.1:p.Arg366Cys
XM_011524840.1:c.928C>T XP_011523142.1:p.Arg310Cys
XM_017024687.1:c.1096C>T XP_016880176.1:p.Arg366Cys
XM_024450771.1:c.1984C>T XP_024306539.1:p.Arg662Cys
XM_024450772.1:c.928C>T XP_024306540.1:p.Arg310Cys
NM_000263.4:c.1927C>T MANE Select NP_000254.2:p.Arg643Cys