Canonical Allele Identifier: CA399595309
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1029747
ClinVar RCV Id: RCV001331103
dbSNP Id: rs2092906031
MyVariant Identifiers: chr17:g.40688390G>C (hg19) chr17:g.42536372G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536372G>C , CM000679.2:g.42536372G>C GRCh38
NC_000017.10:g.40688390G>C , CM000679.1:g.40688390G>C GRCh37
NC_000017.9:g.37941916G>C NCBI36
NG_011552.1:g.5440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.100G>C MANE Select ENSP00000225927.1:p.Ala34Pro
ENST00000225927.6:c.100G>C ENSP00000225927.1:p.Ala34Pro
NM_000263.3:c.100G>C NP_000254.2:p.Ala34Pro
XM_024450771.1:c.100G>C XP_024306539.1:p.Ala34Pro
NM_000263.4:c.100G>C MANE Select NP_000254.2:p.Ala34Pro
Search 100 bp 5'
Search 100 bp 3'