Canonical Allele Identifier: CA248375
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 204586
dbSNP Id: rs796052123

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536639G>T , CM000679.2:g.42536639G>T GRCh38
NC_000017.10:g.40688657G>T , CM000679.1:g.40688657G>T GRCh37
NC_000017.9:g.37942183G>T NCBI36
NG_011552.1:g.5707G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.367G>T MANE Select ENSP00000225927.1:p.Glu123Ter
ENST00000225927.6:c.367G>T ENSP00000225927.1:p.Glu123Ter
ENST00000586516.5:c.117G>T
ENST00000591587.1:c.110G>T ENSP00000467836.1:p.Arg37Leu
NM_000263.3:c.367G>T NP_000254.2:p.Glu123Ter
XM_006721920.2:c.-376G>T XP_006721983.1:n.-376G>T
XM_011524840.1:c.-376G>T XP_011523142.1:n.-376G>T
XM_024450771.1:c.367G>T XP_024306539.1:p.Glu123Ter
NM_000263.4:c.367G>T MANE Select NP_000254.2:p.Glu123Ter