Canonical Allele Identifier: CA2260530639
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544162C= , CM000679.2:g.42544162C= GRCh38
NC_000017.10:g.40696180C= , CM000679.1:g.40696180C= GRCh37
NC_000017.9:g.37949706C= NCBI36
NG_011552.1:g.13230C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2156C= MANE Select ENSP00000225927.1:p.Pro719=
ENST00000225927.6:c.2156C= ENSP00000225927.1:p.Pro719=
NM_000263.3:c.2156C= NP_000254.2:p.Pro719=
XM_006721920.2:c.1325C= XP_006721983.1:p.Pro442=
XM_011524840.1:c.1157C= XP_011523142.1:p.Pro386=
XM_017024687.1:c.1325C= XP_016880176.1:p.Pro442=
XM_024450771.1:c.2213C= XP_024306539.1:p.Pro738=
XM_024450772.1:c.1157C= XP_024306540.1:p.Pro386=
NM_000263.4:c.2156C= MANE Select NP_000254.2:p.Pro719=