Canonical Allele Identifier: CA500217122
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2942844
ClinVar RCV Id: RCV003808010 RCV003893413
dbSNP Id: rs1349207240
gnomAD v2: 17-40696022-G-A
gnomAD v4: 17-42544004-G-A
MyVariant Identifiers: chr17:g.40696022G>A (hg19) chr17:g.42544004G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544004G>A , CM000679.2:g.42544004G>A GRCh38
NC_000017.10:g.40696022G>A , CM000679.1:g.40696022G>A GRCh37
NC_000017.9:g.37949548G>A NCBI36
NG_011552.1:g.13072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1998G>A MANE Select ENSP00000225927.1:p.Leu666=
ENST00000225927.6:c.1998G>A ENSP00000225927.1:p.Leu666=
ENST00000591587.1:c.1336G>A ENSP00000467836.1:n.1336G>A
NM_000263.3:c.1998G>A NP_000254.2:p.Leu666=
XM_006721920.2:c.1167G>A XP_006721983.1:p.Leu389=
XM_011524840.1:c.999G>A XP_011523142.1:p.Leu333=
XM_017024687.1:c.1167G>A XP_016880176.1:p.Leu389=
XM_024450771.1:c.2055G>A XP_024306539.1:p.Leu685=
XM_024450772.1:c.999G>A XP_024306540.1:p.Leu333=
NM_000263.4:c.1998G>A MANE Select NP_000254.2:p.Leu666=
Search 100 bp 5'
Search 100 bp 3'