Canonical Allele Identifier: CA2260530530
Community Standard Title: NM_000263.4(NAGLU):c.1928G= (p.Arg643=)
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543934G= , CM000679.2:g.42543934G= GRCh38
NC_000017.10:g.40695952G= , CM000679.1:g.40695952G= GRCh37
NC_000017.9:g.37949478G= NCBI36
NG_011552.1:g.13002G=

Transcript Alleles

HGVS Amino-acid Change
NM_000263.4:c.1928G= MANE Select NP_000254.2:p.Arg643=
ENST00000225927.7:c.1928G= MANE Select ENSP00000225927.1:p.Arg643=
NM_000263.3:c.1928G= NP_000254.2:p.Arg643=
ENST00000225927.6:c.1928G= ENSP00000225927.1:p.Arg643=
ENST00000591587.1:c.1266G= ENSP00000467836.1:n.1266G=
XM_006721920.2:c.1097G= XP_006721983.1:p.Arg366=
XM_011524840.1:c.929G= XP_011523142.1:p.Arg310=
XM_017024687.1:c.1097G= XP_016880176.1:p.Arg366=
XM_024450771.1:c.1985G= XP_024306539.1:p.Arg662=
XM_024450772.1:c.929G= XP_024306540.1:p.Arg310=