Canonical Allele Identifier: CA8576701
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1534842
ClinVar RCV Id: RCV002076950
dbSNP Id: rs779437712
ExAC: 17:40688611 G / A
gnomAD v2: 17-40688611-G-A
gnomAD v4: 17-42536593-G-A
MyVariant Identifiers: chr17:g.40688611G>A (hg19) chr17:g.42536593G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536593G>A , CM000679.2:g.42536593G>A GRCh38
NC_000017.10:g.40688611G>A , CM000679.1:g.40688611G>A GRCh37
NC_000017.9:g.37942137G>A NCBI36
NG_011552.1:g.5661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.321G>A MANE Select ENSP00000225927.1:p.Gln107=
ENST00000225927.6:c.321G>A ENSP00000225927.1:p.Gln107=
ENST00000586516.5:c.71G>A
ENST00000591587.1:c.64G>A ENSP00000467836.1:p.Ala22Thr
NM_000263.3:c.321G>A NP_000254.2:p.Gln107=
XM_006721920.2:c.-422G>A XP_006721983.1:n.-422G>A
XM_011524840.1:c.-422G>A XP_011523142.1:n.-422G>A
XM_024450771.1:c.321G>A XP_024306539.1:p.Gln107=
NM_000263.4:c.321G>A MANE Select NP_000254.2:p.Gln107=
Search 100 bp 5'
Search 100 bp 3'