Canonical Allele Identifier: CA399595941
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1621485
ClinVar RCV Id: RCV002101726
dbSNP Id: rs866267579
gnomAD v2: 17-40688572-C-G
gnomAD v4: 17-42536554-C-G
MyVariant Identifiers: chr17:g.40688572C>G (hg19) chr17:g.42536554C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536554C>G , CM000679.2:g.42536554C>G GRCh38
NC_000017.10:g.40688572C>G , CM000679.1:g.40688572C>G GRCh37
NC_000017.9:g.37942098C>G NCBI36
NG_011552.1:g.5622C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.282C>G MANE Select ENSP00000225927.1:p.Arg94=
ENST00000225927.6:c.282C>G ENSP00000225927.1:p.Arg94=
ENST00000586516.5:c.32C>G
ENST00000591587.1:c.25C>G ENSP00000467836.1:p.Arg9Gly
NM_000263.3:c.282C>G NP_000254.2:p.Arg94=
XM_006721920.2:c.-461C>G XP_006721983.1:n.-461C>G
XM_011524840.1:c.-461C>G XP_011523142.1:n.-461C>G
XM_024450771.1:c.282C>G XP_024306539.1:p.Arg94=
NM_000263.4:c.282C>G MANE Select NP_000254.2:p.Arg94=
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Search 100 bp 3'