Canonical Allele Identifier: CA772108835
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1425645906
gnomAD v3: 17-42536162-T-C
gnomAD v4: 17-42536162-T-C
MyVariant Identifiers: chr17:g.40688180T>C (hg19) chr17:g.42536162T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536162T>C , CM000679.2:g.42536162T>C GRCh38
NC_000017.10:g.40688180T>C , CM000679.1:g.40688180T>C GRCh37
NC_000017.9:g.37941706T>C NCBI36
NG_011552.1:g.5230T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000263.3:c.-111T>C NP_000254.2:n.-111T>C
XM_024450771.1:c.-111T>C XP_024306539.1:n.-111T>C
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