Canonical Allele Identifier: CA170087
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 143188
dbSNP Id: rs527236037

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543955G>A , CM000679.2:g.42543955G>A GRCh38
NC_000017.10:g.40695973G>A , CM000679.1:g.40695973G>A GRCh37
NC_000017.9:g.37949499G>A NCBI36
NG_011552.1:g.13023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1949G>A MANE Select ENSP00000225927.1:p.Gly650Glu
ENST00000225927.6:c.1949G>A ENSP00000225927.1:p.Gly650Glu
ENST00000591587.1:c.1287G>A ENSP00000467836.1:n.1287G>A
NM_000263.3:c.1949G>A NP_000254.2:p.Gly650Glu
XM_006721920.2:c.1118G>A XP_006721983.1:p.Gly373Glu
XM_011524840.1:c.950G>A XP_011523142.1:p.Gly317Glu
XM_017024687.1:c.1118G>A XP_016880176.1:p.Gly373Glu
XM_024450771.1:c.2006G>A XP_024306539.1:p.Gly669Glu
XM_024450772.1:c.950G>A XP_024306540.1:p.Gly317Glu
NM_000263.4:c.1949G>A MANE Select NP_000254.2:p.Gly650Glu