Canonical Allele Identifier: CA2260530353
Community Standard Title: NM_000263.4(NAGLU):c.1562C= (p.Pro521=)
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543568C= , CM000679.2:g.42543568C= GRCh38
NC_000017.10:g.40695586C= , CM000679.1:g.40695586C= GRCh37
NC_000017.9:g.37949112C= NCBI36
NG_011552.1:g.12636C=

Transcript Alleles

HGVS Amino-acid Change
NM_000263.4:c.1562C= MANE Select NP_000254.2:p.Pro521=
ENST00000225927.7:c.1562C= MANE Select ENSP00000225927.1:p.Pro521=
NM_000263.3:c.1562C= NP_000254.2:p.Pro521=
ENST00000225927.6:c.1562C= ENSP00000225927.1:p.Pro521=
ENST00000591587.1:c.900C= ENSP00000467836.1:n.900C=
XM_006721920.2:c.731C= XP_006721983.1:p.Pro244=
XM_011524840.1:c.563C= XP_011523142.1:p.Pro188=
XM_017024687.1:c.731C= XP_016880176.1:p.Pro244=
XM_024450771.1:c.1619C= XP_024306539.1:p.Pro540=
XM_024450772.1:c.563C= XP_024306540.1:p.Pro188=