Canonical Allele Identifier: CA290778820
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 557047
ClinVar RCV Id: RCV000673135 RCV001855591 RCV002245569
dbSNP Id: rs768918822
gnomAD v2: 17-40693207-A-G
gnomAD v3: 17-42541189-A-G
gnomAD v4: 17-42541189-A-G
MyVariant Identifiers: chr17:g.40693207A>G (hg19) chr17:g.42541189A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541189A>G , CM000679.2:g.42541189A>G GRCh38
NC_000017.10:g.40693207A>G , CM000679.1:g.40693207A>G GRCh37
NC_000017.9:g.37946733A>G NCBI36
NG_011552.1:g.10257A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1004A>G MANE Select ENSP00000225927.1:p.Tyr335Cys
ENST00000225927.6:c.1004A>G ENSP00000225927.1:p.Tyr335Cys
ENST00000591587.1:c.360-1839A>G ENSP00000467836.1:n.360-1839A>G
ENST00000592454.1:c.99A>G
NM_000263.3:c.1004A>G NP_000254.2:p.Tyr335Cys
XM_006721920.2:c.173A>G XP_006721983.1:p.Tyr58Cys
XM_011524840.1:c.23-1839A>G XP_011523142.1:n.23-1839A>G
XM_017024687.1:c.173A>G XP_016880176.1:p.Tyr58Cys
XM_024450771.1:c.1061A>G XP_024306539.1:p.Tyr354Cys
XM_024450772.1:c.23-1839A>G XP_024306540.1:n.23-1839A>G
NM_000263.4:c.1004A>G MANE Select NP_000254.2:p.Tyr335Cys
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