Canonical Allele Identifier: CA250027

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1563
• ClinVar RCV Id: RCV000001629 ; RCV001227283
• dbSNP Id: rs104894593
• gnomAD v2: 17-40695952-G-A
• gnomAD v4: 17-42543934-G-A
• MyVariant Identifiers: chr17:g.40695952G>A (hg19) ; chr17:g.42543934G>A (hg38)
• PubMed: PMID:8650226 ; PMID:10094189

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543934G>A , CM000679.2:g.42543934G>A	GRCh38
NC_000017.10:g.40695952G>A , CM000679.1:g.40695952G>A	GRCh37
NC_000017.9:g.37949478G>A	NCBI36
NG_011552.1:g.13002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1928G>A MANE Select	ENSP00000225927.1:p.Arg643His
ENST00000225927.6:c.1928G>A	ENSP00000225927.1:p.Arg643His
ENST00000591587.1:c.1266G>A	ENSP00000467836.1:n.1266G>A
NM_000263.3:c.1928G>A	NP_000254.2:p.Arg643His
XM_006721920.2:c.1097G>A	XP_006721983.1:p.Arg366His
XM_011524840.1:c.929G>A	XP_011523142.1:p.Arg310His
XM_017024687.1:c.1097G>A	XP_016880176.1:p.Arg366His
XM_024450771.1:c.1985G>A	XP_024306539.1:p.Arg662His
XM_024450772.1:c.929G>A	XP_024306540.1:p.Arg310His
NM_000263.4:c.1928G>A MANE Select	NP_000254.2:p.Arg643His