Canonical Allele Identifier: CA399595208
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1959180
ClinVar RCV Id: RCV002701154
gnomAD v4: 17-42536346-A-G
MyVariant Identifiers: chr17:g.40688364A>G (hg19) chr17:g.42536346A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536346A>G , CM000679.2:g.42536346A>G GRCh38
NC_000017.10:g.40688364A>G , CM000679.1:g.40688364A>G GRCh37
NC_000017.9:g.37941890A>G NCBI36
NG_011552.1:g.5414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.74A>G MANE Select ENSP00000225927.1:p.Glu25Gly
ENST00000225927.6:c.74A>G ENSP00000225927.1:p.Glu25Gly
NM_000263.3:c.74A>G NP_000254.2:p.Glu25Gly
XM_024450771.1:c.74A>G XP_024306539.1:p.Glu25Gly
NM_000263.4:c.74A>G MANE Select NP_000254.2:p.Glu25Gly
Search 100 bp 5'
Search 100 bp 3'