Canonical Allele Identifier: CA399596200
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536616C>A , CM000679.2:g.42536616C>A GRCh38
NC_000017.10:g.40688634C>A , CM000679.1:g.40688634C>A GRCh37
NC_000017.9:g.37942160C>A NCBI36
NG_011552.1:g.5684C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.344C>A MANE Select ENSP00000225927.1:p.Pro115Gln
ENST00000225927.6:c.344C>A ENSP00000225927.1:p.Pro115Gln
ENST00000586516.5:c.94C>A
ENST00000591587.1:c.87C>A ENSP00000467836.1:p.Ala29=
NM_000263.3:c.344C>A NP_000254.2:p.Pro115Gln
XM_006721920.2:c.-399C>A XP_006721983.1:n.-399C>A
XM_011524840.1:c.-399C>A XP_011523142.1:n.-399C>A
XM_024450771.1:c.344C>A XP_024306539.1:p.Pro115Gln
NM_000263.4:c.344C>A MANE Select NP_000254.2:p.Pro115Gln