Canonical Allele Identifier: CA399604307
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543626G>C , CM000679.2:g.42543626G>C GRCh38
NC_000017.10:g.40695644G>C , CM000679.1:g.40695644G>C GRCh37
NC_000017.9:g.37949170G>C NCBI36
NG_011552.1:g.12694G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1620G>C MANE Select ENSP00000225927.1:p.Trp540Cys
ENST00000225927.6:c.1620G>C ENSP00000225927.1:p.Trp540Cys
ENST00000591587.1:c.958G>C ENSP00000467836.1:n.958G>C
NM_000263.3:c.1620G>C NP_000254.2:p.Trp540Cys
XM_006721920.2:c.789G>C XP_006721983.1:p.Trp263Cys
XM_011524840.1:c.621G>C XP_011523142.1:p.Trp207Cys
XM_017024687.1:c.789G>C XP_016880176.1:p.Trp263Cys
XM_024450771.1:c.1677G>C XP_024306539.1:p.Trp559Cys
XM_024450772.1:c.621G>C XP_024306540.1:p.Trp207Cys
NM_000263.4:c.1620G>C MANE Select NP_000254.2:p.Trp540Cys