Canonical Allele Identifier: CA399595506
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536442C>A , CM000679.2:g.42536442C>A GRCh38
NC_000017.10:g.40688460C>A , CM000679.1:g.40688460C>A GRCh37
NC_000017.9:g.37941986C>A NCBI36
NG_011552.1:g.5510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.170C>A MANE Select ENSP00000225927.1:p.Ala57Asp
ENST00000225927.6:c.170C>A ENSP00000225927.1:p.Ala57Asp
NM_000263.3:c.170C>A NP_000254.2:p.Ala57Asp
XM_024450771.1:c.170C>A XP_024306539.1:p.Ala57Asp
NM_000263.4:c.170C>A MANE Select NP_000254.2:p.Ala57Asp