Canonical Allele Identifier: CA2260530301
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543485G= , CM000679.2:g.42543485G= GRCh38
NC_000017.10:g.40695503G= , CM000679.1:g.40695503G= GRCh37
NC_000017.9:g.37949029G= NCBI36
NG_011552.1:g.12553G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1479G= MANE Select ENSP00000225927.1:p.Ala493=
ENST00000225927.6:c.1479G= ENSP00000225927.1:p.Ala493=
ENST00000591587.1:c.817G= ENSP00000467836.1:n.817G=
ENST00000592454.1:c.518G=
NM_000263.3:c.1479G= NP_000254.2:p.Ala493=
XM_006721920.2:c.648G= XP_006721983.1:p.Ala216=
XM_011524840.1:c.480G= XP_011523142.1:p.Ala160=
XM_017024687.1:c.648G= XP_016880176.1:p.Ala216=
XM_024450771.1:c.1536G= XP_024306539.1:p.Ala512=
XM_024450772.1:c.480G= XP_024306540.1:p.Ala160=
NM_000263.4:c.1479G= MANE Select NP_000254.2:p.Ala493=