Canonical Allele Identifier: CA2260530613
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544106T= , CM000679.2:g.42544106T= GRCh38
NC_000017.10:g.40696124T= , CM000679.1:g.40696124T= GRCh37
NC_000017.9:g.37949650T= NCBI36
NG_011552.1:g.13174T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2100T= MANE Select ENSP00000225927.1:p.Asn700=
ENST00000225927.6:c.2100T= ENSP00000225927.1:p.Asn700=
ENST00000591587.1:c.1438T= ENSP00000467836.1:n.1438T=
NM_000263.3:c.2100T= NP_000254.2:p.Asn700=
XM_006721920.2:c.1269T= XP_006721983.1:p.Asn423=
XM_011524840.1:c.1101T= XP_011523142.1:p.Asn367=
XM_017024687.1:c.1269T= XP_016880176.1:p.Asn423=
XM_024450771.1:c.2157T= XP_024306539.1:p.Asn719=
XM_024450772.1:c.1101T= XP_024306540.1:p.Asn367=
NM_000263.4:c.2100T= MANE Select NP_000254.2:p.Asn700=