Canonical Allele Identifier: CA2260530595
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544065G= , CM000679.2:g.42544065G= GRCh38
NC_000017.10:g.40696083G= , CM000679.1:g.40696083G= GRCh37
NC_000017.9:g.37949609G= NCBI36
NG_011552.1:g.13133G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2059G= MANE Select ENSP00000225927.1:p.Ala687=
ENST00000225927.6:c.2059G= ENSP00000225927.1:p.Ala687=
ENST00000591587.1:c.1397G= ENSP00000467836.1:n.1397G=
NM_000263.3:c.2059G= NP_000254.2:p.Ala687=
XM_006721920.2:c.1228G= XP_006721983.1:p.Ala410=
XM_011524840.1:c.1060G= XP_011523142.1:p.Ala354=
XM_017024687.1:c.1228G= XP_016880176.1:p.Ala410=
XM_024450771.1:c.2116G= XP_024306539.1:p.Ala706=
XM_024450772.1:c.1060G= XP_024306540.1:p.Ala354=
NM_000263.4:c.2059G= MANE Select NP_000254.2:p.Ala687=