Canonical Allele Identifier: CA290771000
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs572439198
gnomAD v3: 17-42536161-C-G
gnomAD v4: 17-42536161-C-G
MyVariant Identifiers: chr17:g.40688179C>G (hg19) chr17:g.42536161C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536161C>G , CM000679.2:g.42536161C>G GRCh38
NC_000017.10:g.40688179C>G , CM000679.1:g.40688179C>G GRCh37
NC_000017.9:g.37941705C>G NCBI36
NG_011552.1:g.5229C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000263.3:c.-112C>G NP_000254.2:n.-112C>G
XM_024450771.1:c.-112C>G XP_024306539.1:n.-112C>G
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