Canonical Allele Identifier: CA8577152
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 836355
dbSNP Id: rs774971794

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544165G>A , CM000679.2:g.42544165G>A GRCh38
NC_000017.10:g.40696183G>A , CM000679.1:g.40696183G>A GRCh37
NC_000017.9:g.37949709G>A NCBI36
NG_011552.1:g.13233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2159G>A MANE Select ENSP00000225927.1:p.Arg720Gln
ENST00000225927.6:c.2159G>A ENSP00000225927.1:p.Arg720Gln
NM_000263.3:c.2159G>A NP_000254.2:p.Arg720Gln
XM_006721920.2:c.1328G>A XP_006721983.1:p.Arg443Gln
XM_011524840.1:c.1160G>A XP_011523142.1:p.Arg387Gln
XM_017024687.1:c.1328G>A XP_016880176.1:p.Arg443Gln
XM_024450771.1:c.2216G>A XP_024306539.1:p.Arg739Gln
XM_024450772.1:c.1160G>A XP_024306540.1:p.Arg387Gln
NM_000263.4:c.2159G>A MANE Select NP_000254.2:p.Arg720Gln