Canonical Allele Identifier: CA500215916
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2100533
ClinVar RCV Id: RCV003014451
gnomAD v4: 17-42536404-C-A
MyVariant Identifiers: chr17:g.40688422C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536404C>A , CM000679.2:g.42536404C>A GRCh38
NC_000017.10:g.40688422C>A , CM000679.1:g.40688422C>A GRCh37
NC_000017.9:g.37941948C>A NCBI36
NG_011552.1:g.5472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.132C>A MANE Select ENSP00000225927.1:p.Pro44=
ENST00000225927.6:c.132C>A ENSP00000225927.1:p.Pro44=
NM_000263.3:c.132C>A NP_000254.2:p.Pro44=
XM_024450771.1:c.132C>A XP_024306539.1:p.Pro44=
NM_000263.4:c.132C>A MANE Select NP_000254.2:p.Pro44=
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