Canonical Allele Identifier: CA290771017
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs888546727
gnomAD v4: 17-42536187-C-A
MyVariant Identifiers: chr17:g.40688205C>A (hg19) chr17:g.42536187C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536187C>A , CM000679.2:g.42536187C>A GRCh38
NC_000017.10:g.40688205C>A , CM000679.1:g.40688205C>A GRCh37
NC_000017.9:g.37941731C>A NCBI36
NG_011552.1:g.5255C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-86C>A ENSP00000225927.1:n.-86C>A
NM_000263.3:c.-86C>A NP_000254.2:n.-86C>A
XM_024450771.1:c.-86C>A XP_024306539.1:n.-86C>A
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