Canonical Allele Identifier: CA399605745
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543990C>G , CM000679.2:g.42543990C>G GRCh38
NC_000017.10:g.40696008C>G , CM000679.1:g.40696008C>G GRCh37
NC_000017.9:g.37949534C>G NCBI36
NG_011552.1:g.13058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1984C>G MANE Select ENSP00000225927.1:p.Gln662Glu
ENST00000225927.6:c.1984C>G ENSP00000225927.1:p.Gln662Glu
ENST00000591587.1:c.1322C>G ENSP00000467836.1:n.1322C>G
NM_000263.3:c.1984C>G NP_000254.2:p.Gln662Glu
XM_006721920.2:c.1153C>G XP_006721983.1:p.Gln385Glu
XM_011524840.1:c.985C>G XP_011523142.1:p.Gln329Glu
XM_017024687.1:c.1153C>G XP_016880176.1:p.Gln385Glu
XM_024450771.1:c.2041C>G XP_024306539.1:p.Gln681Glu
XM_024450772.1:c.985C>G XP_024306540.1:p.Gln329Glu
NM_000263.4:c.1984C>G MANE Select NP_000254.2:p.Gln662Glu