Canonical Allele Identifier: CA2260529207
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541197A= , CM000679.2:g.42541197A= GRCh38
NC_000017.10:g.40693215A= , CM000679.1:g.40693215A= GRCh37
NC_000017.9:g.37946741A= NCBI36
NG_011552.1:g.10265A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1012A= MANE Select ENSP00000225927.1:p.Met338=
ENST00000225927.6:c.1012A= ENSP00000225927.1:p.Met338=
ENST00000591587.1:c.360-1831A= ENSP00000467836.1:n.360-1831A=
ENST00000592454.1:c.107A=
NM_000263.3:c.1012A= NP_000254.2:p.Met338=
XM_006721920.2:c.181A= XP_006721983.1:p.Met61=
XM_011524840.1:c.23-1831A= XP_011523142.1:n.23-1831A=
XM_017024687.1:c.181A= XP_016880176.1:p.Met61=
XM_024450771.1:c.1069A= XP_024306539.1:p.Met357=
XM_024450772.1:c.23-1831A= XP_024306540.1:n.23-1831A=
NM_000263.4:c.1012A= MANE Select NP_000254.2:p.Met338=