Canonical Allele Identifier: CA399595771
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 968882
dbSNP Id: rs2092906625

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536513A>G , CM000679.2:g.42536513A>G GRCh38
NC_000017.10:g.40688531A>G , CM000679.1:g.40688531A>G GRCh37
NC_000017.9:g.37942057A>G NCBI36
NG_011552.1:g.5581A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.241A>G MANE Select ENSP00000225927.1:p.Thr81Ala
ENST00000225927.6:c.241A>G ENSP00000225927.1:p.Thr81Ala
NM_000263.3:c.241A>G NP_000254.2:p.Thr81Ala
XM_024450771.1:c.241A>G XP_024306539.1:p.Thr81Ala
NM_000263.4:c.241A>G MANE Select NP_000254.2:p.Thr81Ala