Canonical Allele Identifier: CA2260527982
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538713T= , CM000679.2:g.42538713T= GRCh38
NC_000017.10:g.40690731T= , CM000679.1:g.40690731T= GRCh37
NC_000017.9:g.37944257T= NCBI36
NG_011552.1:g.7781T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.722T= MANE Select ENSP00000225927.1:p.Val241=
ENST00000225927.6:c.722T= ENSP00000225927.1:p.Val241=
ENST00000586516.5:c.324T=
ENST00000591587.1:c.317T= ENSP00000467836.1:p.Val106=
NM_000263.3:c.722T= NP_000254.2:p.Val241=
XM_006721920.2:c.-21T= XP_006721983.1:n.-21T=
XM_011524840.1:c.-21T= XP_011523142.1:n.-21T=
XM_017024687.1:c.-21T= XP_016880176.1:n.-21T=
XM_024450771.1:c.779T= XP_024306539.1:p.Val260=
XM_024450772.1:c.-21T= XP_024306540.1:n.-21T=
NM_000263.4:c.722T= MANE Select NP_000254.2:p.Val241=