Canonical Allele Identifier: CA290771374
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 752440
ClinVar RCV Id: RCV000929583
dbSNP Id: rs866267579
gnomAD v2: 17-40688572-C-T
gnomAD v3: 17-42536554-C-T
gnomAD v4: 17-42536554-C-T
MyVariant Identifiers: chr17:g.40688572C>T (hg19) chr17:g.42536554C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536554C>T , CM000679.2:g.42536554C>T GRCh38
NC_000017.10:g.40688572C>T , CM000679.1:g.40688572C>T GRCh37
NC_000017.9:g.37942098C>T NCBI36
NG_011552.1:g.5622C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.282C>T MANE Select ENSP00000225927.1:p.Arg94=
ENST00000225927.6:c.282C>T ENSP00000225927.1:p.Arg94=
ENST00000586516.5:c.32C>T
ENST00000591587.1:c.25C>T ENSP00000467836.1:p.Arg9Ter
NM_000263.3:c.282C>T NP_000254.2:p.Arg94=
XM_006721920.2:c.-461C>T XP_006721983.1:n.-461C>T
XM_011524840.1:c.-461C>T XP_011523142.1:n.-461C>T
XM_024450771.1:c.282C>T XP_024306539.1:p.Arg94=
NM_000263.4:c.282C>T MANE Select NP_000254.2:p.Arg94=
Search 100 bp 5'
Search 100 bp 3'