Canonical Allele Identifier: CA2260526948
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536778G= , CM000679.2:g.42536778G= GRCh38
NC_000017.10:g.40688796G= , CM000679.1:g.40688796G= GRCh37
NC_000017.9:g.37942322G= NCBI36
NG_011552.1:g.5846G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+123G= MANE Select ENSP00000225927.1:n.383+123G=
ENST00000225927.6:c.383+123G= ENSP00000225927.1:n.383+123G=
ENST00000586516.5:c.133+123G=
ENST00000591587.1:c.126+123G= ENSP00000467836.1:n.126+123G=
NM_000263.3:c.383+123G= NP_000254.2:n.383+123G=
XM_006721920.2:c.-360+123G= XP_006721983.1:n.-360+123G=
XM_011524840.1:c.-360+123G= XP_011523142.1:n.-360+123G=
XM_024450771.1:c.384-39G= XP_024306539.1:n.384-39G=
NM_000263.4:c.383+123G= MANE Select NP_000254.2:n.383+123G=