Canonical Allele Identifier: CA10645693
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 323292
ClinVar RCV Id: RCV000383762
dbSNP Id: rs886052951
gnomAD v4: 17-42536195-C-G
MyVariant Identifiers: chr17:g.40688213C>G (hg19) chr17:g.42536195C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536195C>G , CM000679.2:g.42536195C>G GRCh38
NC_000017.10:g.40688213C>G , CM000679.1:g.40688213C>G GRCh37
NC_000017.9:g.37941739C>G NCBI36
NG_011552.1:g.5263C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-78C>G ENSP00000225927.1:n.-78C>G
NM_000263.3:c.-78C>G NP_000254.2:n.-78C>G
XM_024450771.1:c.-78C>G XP_024306539.1:n.-78C>G
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