Canonical Allele Identifier: CA399606561
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544235G>C , CM000679.2:g.42544235G>C GRCh38
NC_000017.10:g.40696253G>C , CM000679.1:g.40696253G>C GRCh37
NC_000017.9:g.37949779G>C NCBI36
NG_011552.1:g.13303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2229G>C MANE Select ENSP00000225927.1:p.Trp743Cys
ENST00000225927.6:c.2229G>C ENSP00000225927.1:p.Trp743Cys
NM_000263.3:c.2229G>C NP_000254.2:p.Trp743Cys
XM_006721920.2:c.1398G>C XP_006721983.1:p.Trp466Cys
XM_011524840.1:c.1230G>C XP_011523142.1:p.Trp410Cys
XM_017024687.1:c.1398G>C XP_016880176.1:p.Trp466Cys
XM_024450771.1:c.2286G>C XP_024306539.1:p.Trp762Cys
XM_024450772.1:c.1230G>C XP_024306540.1:p.Trp410Cys
NM_000263.4:c.2229G>C MANE Select NP_000254.2:p.Trp743Cys