Canonical Allele Identifier: CA2260526748
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536440G= , CM000679.2:g.42536440G= GRCh38
NC_000017.10:g.40688458G= , CM000679.1:g.40688458G= GRCh37
NC_000017.9:g.37941984G= NCBI36
NG_011552.1:g.5508G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.168G= MANE Select ENSP00000225927.1:p.Leu56=
ENST00000225927.6:c.168G= ENSP00000225927.1:p.Leu56=
NM_000263.3:c.168G= NP_000254.2:p.Leu56=
XM_024450771.1:c.168G= XP_024306539.1:p.Leu56=
NM_000263.4:c.168G= MANE Select NP_000254.2:p.Leu56=