Canonical Allele Identifier: CA290771358
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2647789
ClinVar RCV Id: RCV003413236
dbSNP Id: rs1046181264

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536540C>T , CM000679.2:g.42536540C>T GRCh38
NC_000017.10:g.40688558C>T , CM000679.1:g.40688558C>T GRCh37
NC_000017.9:g.37942084C>T NCBI36
NG_011552.1:g.5608C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.268C>T MANE Select ENSP00000225927.1:p.His90Tyr
ENST00000225927.6:c.268C>T ENSP00000225927.1:p.His90Tyr
ENST00000586516.5:c.18C>T
ENST00000591587.1:c.11C>T ENSP00000467836.1:p.Ala4Val
NM_000263.3:c.268C>T NP_000254.2:p.His90Tyr
XM_006721920.2:c.-475C>T XP_006721983.1:n.-475C>T
XM_011524840.1:c.-475C>T XP_011523142.1:n.-475C>T
XM_024450771.1:c.268C>T XP_024306539.1:p.His90Tyr
NM_000263.4:c.268C>T MANE Select NP_000254.2:p.His90Tyr