Canonical Allele Identifier: CA290771162
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2143377
ClinVar RCV Id: RCV003076693
dbSNP Id: rs904902945

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536277A>G , CM000679.2:g.42536277A>G GRCh38
NC_000017.10:g.40688295A>G , CM000679.1:g.40688295A>G GRCh37
NC_000017.9:g.37941821A>G NCBI36
NG_011552.1:g.5345A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.5A>G MANE Select ENSP00000225927.1:p.Glu2Gly
ENST00000225927.6:c.5A>G ENSP00000225927.1:p.Glu2Gly
NM_000263.3:c.5A>G NP_000254.2:p.Glu2Gly
XM_024450771.1:c.5A>G XP_024306539.1:p.Glu2Gly
NM_000263.4:c.5A>G MANE Select NP_000254.2:p.Glu2Gly