Canonical Allele Identifier: CA290771086
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs987583207
gnomAD v2: 17-40688264-C-A
gnomAD v3: 17-42536246-C-A
gnomAD v4: 17-42536246-C-A
MyVariant Identifiers: chr17:g.40688264C>A (hg19) chr17:g.42536246C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536246C>A , CM000679.2:g.42536246C>A GRCh38
NC_000017.10:g.40688264C>A , CM000679.1:g.40688264C>A GRCh37
NC_000017.9:g.37941790C>A NCBI36
NG_011552.1:g.5314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.-27C>A MANE Select ENSP00000225927.1:n.-27C>A
ENST00000225927.6:c.-27C>A ENSP00000225927.1:n.-27C>A
NM_000263.3:c.-27C>A NP_000254.2:n.-27C>A
XM_024450771.1:c.-27C>A XP_024306539.1:n.-27C>A
NM_000263.4:c.-27C>A MANE Select NP_000254.2:n.-27C>A
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