Canonical Allele Identifier: CA500216139
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536498-C-A
MyVariant Identifiers: chr17:g.40688516C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536498C>A , CM000679.2:g.42536498C>A GRCh38
NC_000017.10:g.40688516C>A , CM000679.1:g.40688516C>A GRCh37
NC_000017.9:g.37942042C>A NCBI36
NG_011552.1:g.5566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.226C>A MANE Select ENSP00000225927.1:p.Arg76=
ENST00000225927.6:c.226C>A ENSP00000225927.1:p.Arg76=
NM_000263.3:c.226C>A NP_000254.2:p.Arg76=
XM_024450771.1:c.226C>A XP_024306539.1:p.Arg76=
NM_000263.4:c.226C>A MANE Select NP_000254.2:p.Arg76=
Search 100 bp 5'
Search 100 bp 3'