Canonical Allele Identifier: CA2260527981
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538712G= , CM000679.2:g.42538712G= GRCh38
NC_000017.10:g.40690730G= , CM000679.1:g.40690730G= GRCh37
NC_000017.9:g.37944256G= NCBI36
NG_011552.1:g.7780G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.721G= MANE Select ENSP00000225927.1:p.Val241=
ENST00000225927.6:c.721G= ENSP00000225927.1:p.Val241=
ENST00000586516.5:c.323G=
ENST00000591587.1:c.316G= ENSP00000467836.1:p.Val106=
NM_000263.3:c.721G= NP_000254.2:p.Val241=
XM_006721920.2:c.-22G= XP_006721983.1:n.-22G=
XM_011524840.1:c.-22G= XP_011523142.1:n.-22G=
XM_017024687.1:c.-22G= XP_016880176.1:n.-22G=
XM_024450771.1:c.778G= XP_024306539.1:p.Val260=
XM_024450772.1:c.-22G= XP_024306540.1:n.-22G=
NM_000263.4:c.721G= MANE Select NP_000254.2:p.Val241=