Canonical Allele Identifier: CA8577023
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42543452G>A
GRCh37 chr17:g.40695470G>A
gnomAD v2:
17:40695470 G / A
gnomAD v3:
17:42543452 G / A
gnomAD v4:
chr17-42543452-G-A
Joint Max Group AF 0.00135406 (AMR)
Genomes Max Group AF 0.00118951 (AMR)
Exomes Max Group AF 0.00128703 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543452G>A , CM000679.2:g.42543452G>A GRCh38
NC_000017.10:g.40695470G>A , CM000679.1:g.40695470G>A GRCh37
NC_000017.9:g.37948996G>A NCBI36
NG_011552.1:g.12520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1446G>A MANE Select ENSP00000225927.1:p.Arg482=
ENST00000225927.6:c.1446G>A ENSP00000225927.1:p.Arg482=
ENST00000591587.1:c.784G>A ENSP00000467836.1:n.784G>A
ENST00000592454.1:c.485G>A
NM_000263.3:c.1446G>A NP_000254.2:p.Arg482=
XM_006721920.2:c.615G>A XP_006721983.1:p.Arg205=
XM_011524840.1:c.447G>A XP_011523142.1:p.Arg149=
XM_017024687.1:c.615G>A XP_016880176.1:p.Arg205=
XM_024450771.1:c.1503G>A XP_024306539.1:p.Arg501=
XM_024450772.1:c.447G>A XP_024306540.1:p.Arg149=
NM_000263.4:c.1446G>A MANE Select NP_000254.2:p.Arg482=
Search 100 bp 5'
Search 100 bp 3'