Canonical Allele Identifier: CA500216132
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1367195
ClinVar RCV Id: RCV001947169
dbSNP Id: rs2143076606
gnomAD v4: 17-42536494-C-G
MyVariant Identifiers: chr17:g.40688512C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536494C>G , CM000679.2:g.42536494C>G GRCh38
NC_000017.10:g.40688512C>G , CM000679.1:g.40688512C>G GRCh37
NC_000017.9:g.37942038C>G NCBI36
NG_011552.1:g.5562C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.222C>G MANE Select ENSP00000225927.1:p.Arg74=
ENST00000225927.6:c.222C>G ENSP00000225927.1:p.Arg74=
NM_000263.3:c.222C>G NP_000254.2:p.Arg74=
XM_024450771.1:c.222C>G XP_024306539.1:p.Arg74=
NM_000263.4:c.222C>G MANE Select NP_000254.2:p.Arg74=
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Search 100 bp 3'