Canonical Allele Identifier: CA8577022
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 553948
ClinVar RCV Id: RCV000669494 RCV001855520 RCV003227824
dbSNP Id: rs200909691
ExAC: 17:40695469 G / A
gnomAD v2: 17-40695469-G-A
gnomAD v3: 17-42543451-G-A
gnomAD v4: 17-42543451-G-A
MyVariant Identifiers: chr17:g.40695469G>A (hg19) chr17:g.42543451G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543451G>A , CM000679.2:g.42543451G>A GRCh38
NC_000017.10:g.40695469G>A , CM000679.1:g.40695469G>A GRCh37
NC_000017.9:g.37948995G>A NCBI36
NG_011552.1:g.12519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1445G>A MANE Select ENSP00000225927.1:p.Arg482Gln
ENST00000225927.6:c.1445G>A ENSP00000225927.1:p.Arg482Gln
ENST00000591587.1:c.783G>A ENSP00000467836.1:n.783G>A
ENST00000592454.1:c.484G>A
NM_000263.3:c.1445G>A NP_000254.2:p.Arg482Gln
XM_006721920.2:c.614G>A XP_006721983.1:p.Arg205Gln
XM_011524840.1:c.446G>A XP_011523142.1:p.Arg149Gln
XM_017024687.1:c.614G>A XP_016880176.1:p.Arg205Gln
XM_024450771.1:c.1502G>A XP_024306539.1:p.Arg501Gln
XM_024450772.1:c.446G>A XP_024306540.1:p.Arg149Gln
NM_000263.4:c.1445G>A MANE Select NP_000254.2:p.Arg482Gln
Search 100 bp 5'
Search 100 bp 3'