Canonical Allele Identifier: CA658823945
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 554243
ClinVar RCV Id: RCV000669838 RCV003319393 RCV003767979
dbSNP Id: rs1555621448
MyVariant Identifiers: chr17:g.42536492dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536492dup , CM000679.2:g.42536492dup GRCh38
NC_000017.10:g.40688510dup , CM000679.1:g.40688510dup GRCh37
NC_000017.9:g.37942036dup NCBI36
NG_011552.1:g.5560dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.220dup MANE Select ENSP00000225927.1:p.Arg74ProfsTer?
ENST00000225927.6:c.220dup ENSP00000225927.1:p.Arg74ProfsTer?
NM_000263.3:c.220dup NP_000254.2:p.Arg74ProfsTer?
XM_024450771.1:c.220dup XP_024306539.1:p.Arg74ProfsTer?
NM_000263.4:c.220dup MANE Select NP_000254.2:p.Arg74ProfsTer?
Search 100 bp 5'
Search 100 bp 3'