Canonical Allele Identifier: CA2260530675
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544238A= , CM000679.2:g.42544238A= GRCh38
NC_000017.10:g.40696256A= , CM000679.1:g.40696256A= GRCh37
NC_000017.9:g.37949782A= NCBI36
NG_011552.1:g.13306A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2232A= MANE Select ENSP00000225927.1:p.Ter744=
ENST00000225927.6:c.2232A= ENSP00000225927.1:p.Ter744=
NM_000263.3:c.2232A= NP_000254.2:p.Ter744=
XM_006721920.2:c.1401A= XP_006721983.1:p.Ter467=
XM_011524840.1:c.1233A= XP_011523142.1:p.Ter411=
XM_017024687.1:c.1401A= XP_016880176.1:p.Ter467=
XM_024450771.1:c.2289A= XP_024306539.1:p.Ter763=
XM_024450772.1:c.1233A= XP_024306540.1:p.Ter411=
NM_000263.4:c.2232A= MANE Select NP_000254.2:p.Ter744=