Canonical Allele Identifier: CA399606528
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1366363
ClinVar RCV Id: RCV001944646
dbSNP Id: rs1455286651
gnomAD v2: 17-40696246-G-A
gnomAD v3: 17-42544228-G-A
gnomAD v4: 17-42544228-G-A
MyVariant Identifiers: chr17:g.40696246G>A (hg19) chr17:g.42544228G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544228G>A , CM000679.2:g.42544228G>A GRCh38
NC_000017.10:g.40696246G>A , CM000679.1:g.40696246G>A GRCh37
NC_000017.9:g.37949772G>A NCBI36
NG_011552.1:g.13296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2222G>A MANE Select ENSP00000225927.1:p.Gly741Asp
ENST00000225927.6:c.2222G>A ENSP00000225927.1:p.Gly741Asp
NM_000263.3:c.2222G>A NP_000254.2:p.Gly741Asp
XM_006721920.2:c.1391G>A XP_006721983.1:p.Gly464Asp
XM_011524840.1:c.1223G>A XP_011523142.1:p.Gly408Asp
XM_017024687.1:c.1391G>A XP_016880176.1:p.Gly464Asp
XM_024450771.1:c.2279G>A XP_024306539.1:p.Gly760Asp
XM_024450772.1:c.1223G>A XP_024306540.1:p.Gly408Asp
NM_000263.4:c.2222G>A MANE Select NP_000254.2:p.Gly741Asp
Search 100 bp 5'
Search 100 bp 3'