Canonical Allele Identifier: CA8576813
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 323295
dbSNP Id: rs115680529

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538482G>T , CM000679.2:g.42538482G>T GRCh38
NC_000017.10:g.40690500G>T , CM000679.1:g.40690500G>T GRCh37
NC_000017.9:g.37944026G>T NCBI36
NG_011552.1:g.7550G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.675G>T MANE Select ENSP00000225927.1:p.Leu225=
ENST00000225927.6:c.675G>T ENSP00000225927.1:p.Leu225=
ENST00000586516.5:n.277G>T
ENST00000591587.1:n.270G>T ENSP00000467836.1:p.Leu90=
NM_000263.3:c.675G>T NP_000254.2:p.Leu225=
XM_006721920.2:c.-68G>T XP_006721983.1:p.=
XM_011524840.1:c.-68G>T XP_011523142.1:p.=
XM_017024687.1:c.-68G>T XP_016880176.1:p.=
XM_024450771.1:c.732G>T XP_024306539.1:p.Leu244=
XM_024450772.1:c.-68G>T XP_024306540.1:p.=
NM_000263.4:c.675G>T MANE Select NP_000254.2:p.Leu225=