Canonical Allele Identifier: CA500218286
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40696235C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544217C>A , CM000679.2:g.42544217C>A GRCh38
NC_000017.10:g.40696235C>A , CM000679.1:g.40696235C>A GRCh37
NC_000017.9:g.37949761C>A NCBI36
NG_011552.1:g.13285C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2211C>A MANE Select ENSP00000225927.1:p.Arg737=
ENST00000225927.6:c.2211C>A ENSP00000225927.1:p.Arg737=
NM_000263.3:c.2211C>A NP_000254.2:p.Arg737=
XM_006721920.2:c.1380C>A XP_006721983.1:p.Arg460=
XM_011524840.1:c.1212C>A XP_011523142.1:p.Arg404=
XM_017024687.1:c.1380C>A XP_016880176.1:p.Arg460=
XM_024450771.1:c.2268C>A XP_024306539.1:p.Arg756=
XM_024450772.1:c.1212C>A XP_024306540.1:p.Arg404=
NM_000263.4:c.2211C>A MANE Select NP_000254.2:p.Arg737=
Search 100 bp 5'
Search 100 bp 3'