Canonical Allele Identifier: CA399606465
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544213C>A , CM000679.2:g.42544213C>A GRCh38
NC_000017.10:g.40696231C>A , CM000679.1:g.40696231C>A GRCh37
NC_000017.9:g.37949757C>A NCBI36
NG_011552.1:g.13281C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2207C>A MANE Select ENSP00000225927.1:p.Pro736His
ENST00000225927.6:c.2207C>A ENSP00000225927.1:p.Pro736His
NM_000263.3:c.2207C>A NP_000254.2:p.Pro736His
XM_006721920.2:c.1376C>A XP_006721983.1:p.Pro459His
XM_011524840.1:c.1208C>A XP_011523142.1:p.Pro403His
XM_017024687.1:c.1376C>A XP_016880176.1:p.Pro459His
XM_024450771.1:c.2264C>A XP_024306539.1:p.Pro755His
XM_024450772.1:c.1208C>A XP_024306540.1:p.Pro403His
NM_000263.4:c.2207C>A MANE Select NP_000254.2:p.Pro736His