Canonical Allele Identifier: CA2573154143
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1382617
ClinVar RCV Id: RCV001922252
dbSNP Id: rs1253870232
gnomAD v4: 17-42536326-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536331dup , CM000679.2:g.42536331dup GRCh38
NC_000017.10:g.40688349dup , CM000679.1:g.40688349dup GRCh37
NC_000017.9:g.37941875dup NCBI36
NG_011552.1:g.5399dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.59dup MANE Select ENSP00000225927.1:p.Ala21ArgfsTer?
ENST00000225927.6:c.59dup ENSP00000225927.1:p.Ala21ArgfsTer?
NM_000263.3:c.59dup NP_000254.2:p.Ala21ArgfsTer?
XM_024450771.1:c.59dup XP_024306539.1:p.Ala21ArgfsTer?
NM_000263.4:c.59dup MANE Select NP_000254.2:p.Ala21ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'