Canonical Allele Identifier: CA8577080
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1112735
ClinVar RCV Id: RCV001439797
dbSNP Id: rs535354102
ExAC: 17:40695725 A / G
gnomAD v2: 17-40695725-A-G
gnomAD v3: 17-42543707-A-G
gnomAD v4: 17-42543707-A-G
MyVariant Identifiers: chr17:g.40695725A>G (hg19) chr17:g.42543707A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543707A>G , CM000679.2:g.42543707A>G GRCh38
NC_000017.10:g.40695725A>G , CM000679.1:g.40695725A>G GRCh37
NC_000017.9:g.37949251A>G NCBI36
NG_011552.1:g.12775A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1701A>G MANE Select ENSP00000225927.1:p.Ala567=
ENST00000225927.6:c.1701A>G ENSP00000225927.1:p.Ala567=
ENST00000591587.1:c.1039A>G ENSP00000467836.1:n.1039A>G
NM_000263.3:c.1701A>G NP_000254.2:p.Ala567=
XM_006721920.2:c.870A>G XP_006721983.1:p.Ala290=
XM_011524840.1:c.702A>G XP_011523142.1:p.Ala234=
XM_017024687.1:c.870A>G XP_016880176.1:p.Ala290=
XM_024450771.1:c.1758A>G XP_024306539.1:p.Ala586=
XM_024450772.1:c.702A>G XP_024306540.1:p.Ala234=
NM_000263.4:c.1701A>G MANE Select NP_000254.2:p.Ala567=
Search 100 bp 5'
Search 100 bp 3'