Canonical Allele Identifier: CA399596067
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1912734
ClinVar RCV Id: RCV002601039
dbSNP Id: rs2092906880

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536589C>T , CM000679.2:g.42536589C>T GRCh38
NC_000017.10:g.40688607C>T , CM000679.1:g.40688607C>T GRCh37
NC_000017.9:g.37942133C>T NCBI36
NG_011552.1:g.5657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.317C>T MANE Select ENSP00000225927.1:p.Ser106Phe
ENST00000225927.6:c.317C>T ENSP00000225927.1:p.Ser106Phe
ENST00000586516.5:c.67C>T
ENST00000591587.1:c.60C>T ENSP00000467836.1:p.Leu20=
NM_000263.3:c.317C>T NP_000254.2:p.Ser106Phe
XM_006721920.2:c.-426C>T XP_006721983.1:n.-426C>T
XM_011524840.1:c.-426C>T XP_011523142.1:n.-426C>T
XM_024450771.1:c.317C>T XP_024306539.1:p.Ser106Phe
NM_000263.4:c.317C>T MANE Select NP_000254.2:p.Ser106Phe