Canonical Allele Identifier: CA500217184

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2142484
• ClinVar RCV Id: RCV003060639
• gnomAD v4: 17-42543710-G-A
• MyVariant Identifiers: chr17:g.40695728G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543710G>A , CM000679.2:g.42543710G>A	GRCh38
NC_000017.10:g.40695728G>A , CM000679.1:g.40695728G>A	GRCh37
NC_000017.9:g.37949254G>A	NCBI36
NG_011552.1:g.12778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1704G>A MANE Select	ENSP00000225927.1:p.Val568=
ENST00000225927.6:c.1704G>A	ENSP00000225927.1:p.Val568=
ENST00000591587.1:c.1042G>A	ENSP00000467836.1:n.1042G>A
NM_000263.3:c.1704G>A	NP_000254.2:p.Val568=
XM_006721920.2:c.873G>A	XP_006721983.1:p.Val291=
XM_011524840.1:c.705G>A	XP_011523142.1:p.Val235=
XM_017024687.1:c.873G>A	XP_016880176.1:p.Val291=
XM_024450771.1:c.1761G>A	XP_024306539.1:p.Val587=
XM_024450772.1:c.705G>A	XP_024306540.1:p.Val235=
NM_000263.4:c.1704G>A MANE Select	NP_000254.2:p.Val568=