Canonical Allele Identifier: CA2260530196
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543286C= , CM000679.2:g.42543286C= GRCh38
NC_000017.10:g.40695304C= , CM000679.1:g.40695304C= GRCh37
NC_000017.9:g.37948830C= NCBI36
NG_011552.1:g.12354C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1280C= MANE Select ENSP00000225927.1:p.Pro427=
ENST00000225927.6:c.1280C= ENSP00000225927.1:p.Pro427=
ENST00000591587.1:c.618C= ENSP00000467836.1:n.618C=
ENST00000592454.1:c.319C=
NM_000263.3:c.1280C= NP_000254.2:p.Pro427=
XM_006721920.2:c.449C= XP_006721983.1:p.Pro150=
XM_011524840.1:c.281C= XP_011523142.1:p.Pro94=
XM_017024687.1:c.449C= XP_016880176.1:p.Pro150=
XM_024450771.1:c.1337C= XP_024306539.1:p.Pro446=
XM_024450772.1:c.281C= XP_024306540.1:p.Pro94=
NM_000263.4:c.1280C= MANE Select NP_000254.2:p.Pro427=