Canonical Allele Identifier: CA399595528
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1368009
ClinVar RCV Id: RCV001894535
dbSNP Id: rs1217324478
gnomAD v2: 17-40688466-A-G
gnomAD v3: 17-42536448-A-G
gnomAD v4: 17-42536448-A-G
MyVariant Identifiers: chr17:g.40688466A>G (hg19) chr17:g.42536448A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536448A>G , CM000679.2:g.42536448A>G GRCh38
NC_000017.10:g.40688466A>G , CM000679.1:g.40688466A>G GRCh37
NC_000017.9:g.37941992A>G NCBI36
NG_011552.1:g.5516A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.176A>G MANE Select ENSP00000225927.1:p.Lys59Arg
ENST00000225927.6:c.176A>G ENSP00000225927.1:p.Lys59Arg
NM_000263.3:c.176A>G NP_000254.2:p.Lys59Arg
XM_024450771.1:c.176A>G XP_024306539.1:p.Lys59Arg
NM_000263.4:c.176A>G MANE Select NP_000254.2:p.Lys59Arg
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