Canonical Allele Identifier: CA290778699

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 437446
• ClinVar RCV Id: RCV000501703 ; RCV000624490 ; RCV003319203 ; RCV001865629 ; RCV001591146
• dbSNP Id: rs1052471595
• gnomAD v2: 17-40693137-G-A
• gnomAD v3: 17-42541119-G-A
• gnomAD v4: 17-42541119-G-A
• MyVariant Identifiers: chr17:g.40693137G>A (hg19) ; chr17:g.42541119G>A (hg38)
• PubMed: PMID:15933803 ; PMID:20852935 ; PMID:21204211 ; PMID:25818867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541119G>A , CM000679.2:g.42541119G>A	GRCh38
NC_000017.10:g.40693137G>A , CM000679.1:g.40693137G>A	GRCh37
NC_000017.9:g.37946663G>A	NCBI36
NG_011552.1:g.10187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.934G>A MANE Select	ENSP00000225927.1:p.Asp312Asn
ENST00000225927.6:c.934G>A	ENSP00000225927.1:p.Asp312Asn
ENST00000591587.1:c.360-1909G>A	ENSP00000467836.1:n.360-1909G>A
ENST00000592454.1:c.29G>A
NM_000263.3:c.934G>A	NP_000254.2:p.Asp312Asn
XM_006721920.2:c.103G>A	XP_006721983.1:p.Asp35Asn
XM_011524840.1:c.23-1909G>A	XP_011523142.1:n.23-1909G>A
XM_017024687.1:c.103G>A	XP_016880176.1:p.Asp35Asn
XM_024450771.1:c.991G>A	XP_024306539.1:p.Asp331Asn
XM_024450772.1:c.23-1909G>A	XP_024306540.1:n.23-1909G>A
NM_000263.4:c.934G>A MANE Select	NP_000254.2:p.Asp312Asn