Canonical Allele Identifier: CA2260530593
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544063T= , CM000679.2:g.42544063T= GRCh38
NC_000017.10:g.40696081T= , CM000679.1:g.40696081T= GRCh37
NC_000017.9:g.37949607T= NCBI36
NG_011552.1:g.13131T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2057T= MANE Select ENSP00000225927.1:p.Val686=
ENST00000225927.6:c.2057T= ENSP00000225927.1:p.Val686=
ENST00000591587.1:c.1395T= ENSP00000467836.1:n.1395T=
NM_000263.3:c.2057T= NP_000254.2:p.Val686=
XM_006721920.2:c.1226T= XP_006721983.1:p.Val409=
XM_011524840.1:c.1058T= XP_011523142.1:p.Val353=
XM_017024687.1:c.1226T= XP_016880176.1:p.Val409=
XM_024450771.1:c.2114T= XP_024306539.1:p.Val705=
XM_024450772.1:c.1058T= XP_024306540.1:p.Val353=
NM_000263.4:c.2057T= MANE Select NP_000254.2:p.Val686=