Canonical Allele Identifier: CA399596118
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536599C>G , CM000679.2:g.42536599C>G GRCh38
NC_000017.10:g.40688617C>G , CM000679.1:g.40688617C>G GRCh37
NC_000017.9:g.37942143C>G NCBI36
NG_011552.1:g.5667C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.327C>G MANE Select ENSP00000225927.1:p.Arg109=
ENST00000225927.6:c.327C>G ENSP00000225927.1:p.Arg109=
ENST00000586516.5:c.77C>G
ENST00000591587.1:c.70C>G ENSP00000467836.1:p.Pro24Ala
NM_000263.3:c.327C>G NP_000254.2:p.Arg109=
XM_006721920.2:c.-416C>G XP_006721983.1:n.-416C>G
XM_011524840.1:c.-416C>G XP_011523142.1:n.-416C>G
XM_024450771.1:c.327C>G XP_024306539.1:p.Arg109=
NM_000263.4:c.327C>G MANE Select NP_000254.2:p.Arg109=