Canonical Allele Identifier: CA290771112
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs943381354
gnomAD v2: 17-40688274-C-G
gnomAD v3: 17-42536256-C-G
gnomAD v4: 17-42536256-C-G
MyVariant Identifiers: chr17:g.40688274C>G (hg19) chr17:g.42536256C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536256C>G , CM000679.2:g.42536256C>G GRCh38
NC_000017.10:g.40688274C>G , CM000679.1:g.40688274C>G GRCh37
NC_000017.9:g.37941800C>G NCBI36
NG_011552.1:g.5324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.-17C>G MANE Select ENSP00000225927.1:n.-17C>G
ENST00000225927.6:c.-17C>G ENSP00000225927.1:n.-17C>G
NM_000263.3:c.-17C>G NP_000254.2:n.-17C>G
XM_024450771.1:c.-17C>G XP_024306539.1:n.-17C>G
NM_000263.4:c.-17C>G MANE Select NP_000254.2:n.-17C>G
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