Canonical Allele Identifier: CA500216011
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1669947
ClinVar RCV Id: RCV002201126
dbSNP Id: rs2092906262
MyVariant Identifiers: chr17:g.40688458G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536440G>C , CM000679.2:g.42536440G>C GRCh38
NC_000017.10:g.40688458G>C , CM000679.1:g.40688458G>C GRCh37
NC_000017.9:g.37941984G>C NCBI36
NG_011552.1:g.5508G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.168G>C MANE Select ENSP00000225927.1:p.Leu56=
ENST00000225927.6:c.168G>C ENSP00000225927.1:p.Leu56=
NM_000263.3:c.168G>C NP_000254.2:p.Leu56=
XM_024450771.1:c.168G>C XP_024306539.1:p.Leu56=
NM_000263.4:c.168G>C MANE Select NP_000254.2:p.Leu56=
Search 100 bp 5'
Search 100 bp 3'