Canonical Allele Identifier: CA8576798
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1494388
ClinVar RCV Id: RCV002014991
dbSNP Id: rs765009822
ExAC: 17:40690401 C / A
gnomAD v2: 17-40690401-C-A
gnomAD v3: 17-42538383-C-A
gnomAD v4: 17-42538383-C-A
COSMIC: COSM979513
MyVariant Identifiers: chr17:g.40690401C>A (hg19) chr17:g.42538383C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538383C>A , CM000679.2:g.42538383C>A GRCh38
NC_000017.10:g.40690401C>A , CM000679.1:g.40690401C>A GRCh37
NC_000017.9:g.37943927C>A NCBI36
NG_011552.1:g.7451C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.576C>A MANE Select ENSP00000225927.1:p.Phe192Leu
ENST00000225927.6:c.576C>A ENSP00000225927.1:p.Phe192Leu
ENST00000586516.5:c.178C>A
ENST00000591587.1:c.171C>A ENSP00000467836.1:p.Phe57Leu
NM_000263.3:c.576C>A NP_000254.2:p.Phe192Leu
XM_006721920.2:c.-167C>A XP_006721983.1:n.-167C>A
XM_011524840.1:c.-167C>A XP_011523142.1:n.-167C>A
XM_017024687.1:c.-167C>A XP_016880176.1:n.-167C>A
XM_024450771.1:c.633C>A XP_024306539.1:p.Phe211Leu
XM_024450772.1:c.-167C>A XP_024306540.1:n.-167C>A
NM_000263.4:c.576C>A MANE Select NP_000254.2:p.Phe192Leu
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