Canonical Allele Identifier: CA115052
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1569
ClinVar RCV Id: RCV000001635 RCV002512655
dbSNP Id: rs118204024
gnomAD v4: 17-42536414-T-C
MyVariant Identifiers: chr17:g.40688432T>C (hg19) chr17:g.42536414T>C (hg38)
PubMed: PMID:11068184
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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
ENST00000225927.7:c.142T>C MANE Select ENSP00000225927.1:p.Phe48Leu
ENST00000225927.6:c.142T>C ENSP00000225927.1:p.Phe48Leu
NM_000263.3:c.142T>C NP_000254.2:p.Phe48Leu
XM_024450771.1:c.142T>C XP_024306539.1:p.Phe48Leu
NM_000263.4:c.142T>C MANE Select NP_000254.2:p.Phe48Leu
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