Canonical Allele Identifier: CA2637965334
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536219-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536219T>C , CM000679.2:g.42536219T>C GRCh38
NC_000017.10:g.40688237T>C , CM000679.1:g.40688237T>C GRCh37
NC_000017.9:g.37941763T>C NCBI36
NG_011552.1:g.5287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-54T>C ENSP00000225927.1:n.-54T>C
NM_000263.3:c.-54T>C NP_000254.2:n.-54T>C
XM_024450771.1:c.-54T>C XP_024306539.1:n.-54T>C
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