Canonical Allele Identifier: CA145933
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 92697
dbSNP Id: rs115888189

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541118C>G , CM000679.2:g.42541118C>G GRCh38
NC_000017.10:g.40693136C>G , CM000679.1:g.40693136C>G GRCh37
NC_000017.9:g.37946662C>G NCBI36
NG_011552.1:g.10186C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.933C>G MANE Select ENSP00000225927.1:p.Ala311=
ENST00000225927.6:c.933C>G ENSP00000225927.1:p.Ala311=
ENST00000591587.1:c.360-1910C>G ENSP00000467836.1:n.360-1910C>G
ENST00000592454.1:c.28C>G
NM_000263.3:c.933C>G NP_000254.2:p.Ala311=
XM_006721920.2:c.102C>G XP_006721983.1:p.Ala34=
XM_011524840.1:c.23-1910C>G XP_011523142.1:n.23-1910C>G
XM_017024687.1:c.102C>G XP_016880176.1:p.Ala34=
XM_024450771.1:c.990C>G XP_024306539.1:p.Ala330=
XM_024450772.1:c.23-1910C>G XP_024306540.1:n.23-1910C>G
NM_000263.4:c.933C>G MANE Select NP_000254.2:p.Ala311=