Canonical Allele Identifier: CA170085
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 143187
dbSNP Id: rs527236038

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543952G>T , CM000679.2:g.42543952G>T GRCh38
NC_000017.10:g.40695970G>T , CM000679.1:g.40695970G>T GRCh37
NC_000017.9:g.37949496G>T NCBI36
NG_011552.1:g.13020G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1946G>T MANE Select ENSP00000225927.1:p.Trp649Leu
ENST00000225927.6:c.1946G>T ENSP00000225927.1:p.Trp649Leu
ENST00000591587.1:c.1284G>T ENSP00000467836.1:n.1284G>T
NM_000263.3:c.1946G>T NP_000254.2:p.Trp649Leu
XM_006721920.2:c.1115G>T XP_006721983.1:p.Trp372Leu
XM_011524840.1:c.947G>T XP_011523142.1:p.Trp316Leu
XM_017024687.1:c.1115G>T XP_016880176.1:p.Trp372Leu
XM_024450771.1:c.2003G>T XP_024306539.1:p.Trp668Leu
XM_024450772.1:c.947G>T XP_024306540.1:p.Trp316Leu
NM_000263.4:c.1946G>T MANE Select NP_000254.2:p.Trp649Leu