Canonical Allele Identifier: CA2637965300
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536193-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536193C>A , CM000679.2:g.42536193C>A GRCh38
NC_000017.10:g.40688211C>A , CM000679.1:g.40688211C>A GRCh37
NC_000017.9:g.37941737C>A NCBI36
NG_011552.1:g.5261C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-80C>A ENSP00000225927.1:n.-80C>A
NM_000263.3:c.-80C>A NP_000254.2:n.-80C>A
XM_024450771.1:c.-80C>A XP_024306539.1:n.-80C>A
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