Canonical Allele Identifier: CA8577165
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 557997
ClinVar RCV Id: RCV000674208 RCV001861836 RCV003133502
dbSNP Id: rs749371796
ExAC: 17:40696253 G / A
gnomAD v2: 17-40696253-G-A
gnomAD v3: 17-42544235-G-A
gnomAD v4: 17-42544235-G-A
MyVariant Identifiers: chr17:g.40696253G>A (hg19) chr17:g.42544235G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544235G>A , CM000679.2:g.42544235G>A GRCh38
NC_000017.10:g.40696253G>A , CM000679.1:g.40696253G>A GRCh37
NC_000017.9:g.37949779G>A NCBI36
NG_011552.1:g.13303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2229G>A MANE Select ENSP00000225927.1:p.Trp743Ter
ENST00000225927.6:c.2229G>A ENSP00000225927.1:p.Trp743Ter
NM_000263.3:c.2229G>A NP_000254.2:p.Trp743Ter
XM_006721920.2:c.1398G>A XP_006721983.1:p.Trp466Ter
XM_011524840.1:c.1230G>A XP_011523142.1:p.Trp410Ter
XM_017024687.1:c.1398G>A XP_016880176.1:p.Trp466Ter
XM_024450771.1:c.2286G>A XP_024306539.1:p.Trp762Ter
XM_024450772.1:c.1230G>A XP_024306540.1:p.Trp410Ter
NM_000263.4:c.2229G>A MANE Select NP_000254.2:p.Trp743Ter
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