Canonical Allele Identifier: CA115050
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1567
ClinVar RCV Id: RCV001223228 RCV002269255
dbSNP Id: rs104894597
ExAC: 17:40695717 C / T
gnomAD v2: 17-40695717-C-T
gnomAD v3: 17-42543699-C-T
gnomAD v4: 17-42543699-C-T
MyVariant Identifiers: chr17:g.40695717C>T (hg19) chr17:g.42543699C>T (hg38)
PubMed: PMID:9832037 PMID:10094189 PMID:11286389 PMID:11668611 PMID:11836372 PMID:12202988 PMID:16151907 PMID:18218046 PMID:20852935 PMID:23380547 PMID:25466957
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543699C>T , CM000679.2:g.42543699C>T GRCh38
NC_000017.10:g.40695717C>T , CM000679.1:g.40695717C>T GRCh37
NC_000017.9:g.37949243C>T NCBI36
NG_011552.1:g.12767C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1693C>T MANE Select ENSP00000225927.1:p.Arg565Trp
ENST00000225927.6:c.1693C>T ENSP00000225927.1:p.Arg565Trp
ENST00000591587.1:c.1031C>T ENSP00000467836.1:n.1031C>T
NM_000263.3:c.1693C>T NP_000254.2:p.Arg565Trp
XM_006721920.2:c.862C>T XP_006721983.1:p.Arg288Trp
XM_011524840.1:c.694C>T XP_011523142.1:p.Arg232Trp
XM_017024687.1:c.862C>T XP_016880176.1:p.Arg288Trp
XM_024450771.1:c.1750C>T XP_024306539.1:p.Arg584Trp
XM_024450772.1:c.694C>T XP_024306540.1:p.Arg232Trp
NM_000263.4:c.1693C>T MANE Select NP_000254.2:p.Arg565Trp
Search 100 bp 5'
Search 100 bp 3'