Canonical Allele Identifier: CA115051

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1568
• ClinVar RCV Id: RCV000001634 ; RCV001851558
• dbSNP Id: rs104894598
• gnomAD v4: 17-42543700-G-C
• MyVariant Identifiers: chr17:g.40695718G>C (hg19) ; chr17:g.42543700G>C (hg38)
• PubMed: PMID:10094189 ; PMID:12202988 ; PMID:15933803

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543700G>C , CM000679.2:g.42543700G>C	GRCh38
NC_000017.10:g.40695718G>C , CM000679.1:g.40695718G>C	GRCh37
NC_000017.9:g.37949244G>C	NCBI36
NG_011552.1:g.12768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1694G>C MANE Select	ENSP00000225927.1:p.Arg565Pro
ENST00000225927.6:c.1694G>C	ENSP00000225927.1:p.Arg565Pro
ENST00000591587.1:c.1032G>C	ENSP00000467836.1:n.1032G>C
NM_000263.3:c.1694G>C	NP_000254.2:p.Arg565Pro
XM_006721920.2:c.863G>C	XP_006721983.1:p.Arg288Pro
XM_011524840.1:c.695G>C	XP_011523142.1:p.Arg232Pro
XM_017024687.1:c.863G>C	XP_016880176.1:p.Arg288Pro
XM_024450771.1:c.1751G>C	XP_024306539.1:p.Arg584Pro
XM_024450772.1:c.695G>C	XP_024306540.1:p.Arg232Pro
NM_000263.4:c.1694G>C MANE Select	NP_000254.2:p.Arg565Pro