Canonical Allele Identifier: CA10645687

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 323284
• ClinVar RCV Id: RCV000396247
• dbSNP Id: rs554915381
• gnomAD v2: 17-40688063-C-G
• gnomAD v3: 17-42536045-C-G
• gnomAD v4: 17-42536045-C-G
• MyVariant Identifiers: chr17:g.40688063C>G (hg19) ; chr17:g.42536045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536045C>G , CM000679.2:g.42536045C>G	GRCh38
NC_000017.10:g.40688063C>G , CM000679.1:g.40688063C>G	GRCh37
NC_000017.9:g.37941589C>G	NCBI36
NG_011552.1:g.5113C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.3:c.-228C>G	NP_000254.2:n.-228C>G
XM_024450771.1:c.-228C>G	XP_024306539.1:n.-228C>G