Canonical Allele Identifier: CA129472

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 30795
• ClinVar RCV Id: RCV000023780 ; RCV000433629 ; RCV000590258 ; RCV001043861
• dbSNP Id: rs104894598
• ExAC: 17:40695718 G / A
• gnomAD v2: 17-40695718-G-A
• gnomAD v3: 17-42543700-G-A
• gnomAD v4: 17-42543700-G-A
• MyVariant Identifiers: chr17:g.40695718G>A (hg19) ; chr17:g.42543700G>A (hg38)
• PubMed: PMID:9950362 ; PMID:21937992 ; PMID:23380547

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1694G>A MANE Select	ENSP00000225927.1:p.Arg565Gln
ENST00000225927.6:c.1694G>A	ENSP00000225927.1:p.Arg565Gln
ENST00000591587.1:c.1032G>A	ENSP00000467836.1:n.1032G>A
NM_000263.3:c.1694G>A	NP_000254.2:p.Arg565Gln
XM_006721920.2:c.863G>A	XP_006721983.1:p.Arg288Gln
XM_011524840.1:c.695G>A	XP_011523142.1:p.Arg232Gln
XM_017024687.1:c.863G>A	XP_016880176.1:p.Arg288Gln
XM_024450771.1:c.1751G>A	XP_024306539.1:p.Arg584Gln
XM_024450772.1:c.695G>A	XP_024306540.1:p.Arg232Gln
NM_000263.4:c.1694G>A MANE Select	NP_000254.2:p.Arg565Gln