Canonical Allele Identifier: CA10649285
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 323290
ClinVar RCV Id: RCV000264792
dbSNP Id: rs886052950
gnomAD v4: 17-42536191-T-C
MyVariant Identifiers: chr17:g.40688209T>C (hg19) chr17:g.42536191T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536191T>C , CM000679.2:g.42536191T>C GRCh38
NC_000017.10:g.40688209T>C , CM000679.1:g.40688209T>C GRCh37
NC_000017.9:g.37941735T>C NCBI36
NG_011552.1:g.5259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-82T>C ENSP00000225927.1:n.-82T>C
NM_000263.3:c.-82T>C NP_000254.2:n.-82T>C
XM_024450771.1:c.-82T>C XP_024306539.1:n.-82T>C
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