Canonical Allele Identifier: CA500216178
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1976034
ClinVar RCV Id: RCV002760696
dbSNP Id: rs1294936427
gnomAD v4: 17-42536521-G-A
MyVariant Identifiers: chr17:g.40688539G>A (hg19) chr17:g.42536521G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536521G>A , CM000679.2:g.42536521G>A GRCh38
NC_000017.10:g.40688539G>A , CM000679.1:g.40688539G>A GRCh37
NC_000017.9:g.37942065G>A NCBI36
NG_011552.1:g.5589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.249G>A MANE Select ENSP00000225927.1:p.Val83=
ENST00000225927.6:c.249G>A ENSP00000225927.1:p.Val83=
NM_000263.3:c.249G>A NP_000254.2:p.Val83=
XM_024450771.1:c.249G>A XP_024306539.1:p.Val83=
NM_000263.4:c.249G>A MANE Select NP_000254.2:p.Val83=
Search 100 bp 5'
Search 100 bp 3'