Canonical Allele Identifier: CA399602009
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 871076
ClinVar RCV Id: RCV001090845 RCV001377261
dbSNP Id: rs1183634153
gnomAD v2: 17-40695378-G-A
gnomAD v4: 17-42543360-G-A
COSMIC: COSM5787811
MyVariant Identifiers: chr17:g.40695378G>A (hg19) chr17:g.42543360G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543360G>A , CM000679.2:g.42543360G>A GRCh38
NC_000017.10:g.40695378G>A , CM000679.1:g.40695378G>A GRCh37
NC_000017.9:g.37948904G>A NCBI36
NG_011552.1:g.12428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1354G>A MANE Select ENSP00000225927.1:p.Glu452Lys
ENST00000225927.6:c.1354G>A ENSP00000225927.1:p.Glu452Lys
ENST00000591587.1:c.692G>A ENSP00000467836.1:n.692G>A
ENST00000592454.1:c.393G>A
NM_000263.3:c.1354G>A NP_000254.2:p.Glu452Lys
XM_006721920.2:c.523G>A XP_006721983.1:p.Glu175Lys
XM_011524840.1:c.355G>A XP_011523142.1:p.Glu119Lys
XM_017024687.1:c.523G>A XP_016880176.1:p.Glu175Lys
XM_024450771.1:c.1411G>A XP_024306539.1:p.Glu471Lys
XM_024450772.1:c.355G>A XP_024306540.1:p.Glu119Lys
NM_000263.4:c.1354G>A MANE Select NP_000254.2:p.Glu452Lys
Search 100 bp 5'
Search 100 bp 3'