Canonical Allele Identifier: CA115049
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1566
dbSNP Id: rs104894595

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543568C>T , CM000679.2:g.42543568C>T GRCh38
NC_000017.10:g.40695586C>T , CM000679.1:g.40695586C>T GRCh37
NC_000017.9:g.37949112C>T NCBI36
NG_011552.1:g.12636C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1562C>T MANE Select ENSP00000225927.1:p.Pro521Leu
ENST00000225927.6:c.1562C>T ENSP00000225927.1:p.Pro521Leu
ENST00000591587.1:c.900C>T ENSP00000467836.1:n.900C>T
NM_000263.3:c.1562C>T NP_000254.2:p.Pro521Leu
XM_006721920.2:c.731C>T XP_006721983.1:p.Pro244Leu
XM_011524840.1:c.563C>T XP_011523142.1:p.Pro188Leu
XM_017024687.1:c.731C>T XP_016880176.1:p.Pro244Leu
XM_024450771.1:c.1619C>T XP_024306539.1:p.Pro540Leu
XM_024450772.1:c.563C>T XP_024306540.1:p.Pro188Leu
NM_000263.4:c.1562C>T MANE Select NP_000254.2:p.Pro521Leu