Canonical Allele Identifier: CA115052
Gene: NAGLU HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1569
ClinVar RCV Id: RCV000001635
dbSNP Id: rs118204024

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536414T>C , CM000679.2:g.42536414T>C GRCh38
NC_000017.10:g.40688432T>C , CM000679.1:g.40688432T>C GRCh37
NC_000017.9:g.37941958T>C NCBI36
NG_011552.1:g.5482T>C

Transcript Alleles

HGVS Amino-acid change
NM_000263.3:c.142T>C VV NP_000254.2:p.Phe48Leu
XM_024450771.1:c.142T>C XP_024306539.1:p.Phe48Leu
NM_000263.4:c.142T>C VV MANE Preferred
ENST00000225927.6:c.142T>C ENSP00000225927.1:p.Phe48Leu