Canonical Allele Identifier: CA772115922
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1399880995
gnomAD v3: 17-42536157-A-T
gnomAD v4: 17-42536157-A-T
MyVariant Identifiers: chr17:g.40688175A>T (hg19) chr17:g.42536157A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536157A>T , CM000679.2:g.42536157A>T GRCh38
NC_000017.10:g.40688175A>T , CM000679.1:g.40688175A>T GRCh37
NC_000017.9:g.37941701A>T NCBI36
NG_011552.1:g.5225A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000263.3:c.-116A>T NP_000254.2:n.-116A>T
XM_024450771.1:c.-116A>T XP_024306539.1:n.-116A>T
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