Canonical Allele Identifier: CA10639693
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 323291
ClinVar RCV Id: RCV000322151
dbSNP Id: rs189515084
gnomAD v2: 17-40688210-C-T
gnomAD v3: 17-42536192-C-T
gnomAD v4: 17-42536192-C-T
MyVariant Identifiers: chr17:g.40688210C>T (hg19) chr17:g.42536192C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536192C>T , CM000679.2:g.42536192C>T GRCh38
NC_000017.10:g.40688210C>T , CM000679.1:g.40688210C>T GRCh37
NC_000017.9:g.37941736C>T NCBI36
NG_011552.1:g.5260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-81C>T ENSP00000225927.1:n.-81C>T
NM_000263.3:c.-81C>T NP_000254.2:n.-81C>T
XM_024450771.1:c.-81C>T XP_024306539.1:n.-81C>T
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