Canonical Allele Identifier: CA115042

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1560
• ClinVar RCV Id: RCV000001626 ; RCV000078455 ; RCV000817080
• dbSNP Id: rs104894590
• ExAC: 17:40696045 G / A
• gnomAD v2: 17-40696045-G-A
• gnomAD v3: 17-42544027-G-A
• gnomAD v4: 17-42544027-G-A
• COSMIC: COSM6025924
• MyVariant Identifiers: chr17:g.40696045G>A (hg19) ; chr17:g.42544027G>A (hg38)
• PubMed: PMID:8650226 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544027G>A , CM000679.2:g.42544027G>A	GRCh38
NC_000017.10:g.40696045G>A , CM000679.1:g.40696045G>A	GRCh37
NC_000017.9:g.37949571G>A	NCBI36
NG_011552.1:g.13095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2021G>A MANE Select	ENSP00000225927.1:p.Arg674His
ENST00000225927.6:c.2021G>A	ENSP00000225927.1:p.Arg674His
ENST00000591587.1:c.1359G>A	ENSP00000467836.1:n.1359G>A
NM_000263.3:c.2021G>A	NP_000254.2:p.Arg674His
XM_006721920.2:c.1190G>A	XP_006721983.1:p.Arg397His
XM_011524840.1:c.1022G>A	XP_011523142.1:p.Arg341His
XM_017024687.1:c.1190G>A	XP_016880176.1:p.Arg397His
XM_024450771.1:c.2078G>A	XP_024306539.1:p.Arg693His
XM_024450772.1:c.1022G>A	XP_024306540.1:p.Arg341His
NM_000263.4:c.2021G>A MANE Select	NP_000254.2:p.Arg674His