Canonical Allele Identifier: CA399606553
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544234G>A , CM000679.2:g.42544234G>A GRCh38
NC_000017.10:g.40696252G>A , CM000679.1:g.40696252G>A GRCh37
NC_000017.9:g.37949778G>A NCBI36
NG_011552.1:g.13302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2228G>A MANE Select ENSP00000225927.1:p.Trp743Ter
ENST00000225927.6:c.2228G>A ENSP00000225927.1:p.Trp743Ter
NM_000263.3:c.2228G>A NP_000254.2:p.Trp743Ter
XM_006721920.2:c.1397G>A XP_006721983.1:p.Trp466Ter
XM_011524840.1:c.1229G>A XP_011523142.1:p.Trp410Ter
XM_017024687.1:c.1397G>A XP_016880176.1:p.Trp466Ter
XM_024450771.1:c.2285G>A XP_024306539.1:p.Trp762Ter
XM_024450772.1:c.1229G>A XP_024306540.1:p.Trp410Ter
NM_000263.4:c.2228G>A MANE Select NP_000254.2:p.Trp743Ter