Canonical Allele Identifier: CA399594983
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1979393
ClinVar RCV Id: RCV002766269
dbSNP Id: rs1217361905

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536304G>C , CM000679.2:g.42536304G>C GRCh38
NC_000017.10:g.40688322G>C , CM000679.1:g.40688322G>C GRCh37
NC_000017.9:g.37941848G>C NCBI36
NG_011552.1:g.5372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.32G>C MANE Select ENSP00000225927.1:p.Gly11Ala
ENST00000225927.6:c.32G>C ENSP00000225927.1:p.Gly11Ala
NM_000263.3:c.32G>C NP_000254.2:p.Gly11Ala
XM_024450771.1:c.32G>C XP_024306539.1:p.Gly11Ala
NM_000263.4:c.32G>C MANE Select NP_000254.2:p.Gly11Ala