Canonical Allele Identifier: CA399596252
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536625C>G , CM000679.2:g.42536625C>G GRCh38
NC_000017.10:g.40688643C>G , CM000679.1:g.40688643C>G GRCh37
NC_000017.9:g.37942169C>G NCBI36
NG_011552.1:g.5693C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.353C>G MANE Select ENSP00000225927.1:p.Pro118Arg
ENST00000225927.6:c.353C>G ENSP00000225927.1:p.Pro118Arg
ENST00000586516.5:c.103C>G
ENST00000591587.1:c.96C>G ENSP00000467836.1:p.Ala32=
NM_000263.3:c.353C>G NP_000254.2:p.Pro118Arg
XM_006721920.2:c.-390C>G XP_006721983.1:n.-390C>G
XM_011524840.1:c.-390C>G XP_011523142.1:n.-390C>G
XM_024450771.1:c.353C>G XP_024306539.1:p.Pro118Arg
NM_000263.4:c.353C>G MANE Select NP_000254.2:p.Pro118Arg