Canonical Allele Identifier: CA399606490

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2501059
• ClinVar RCV Id: RCV003226656
• gnomAD v4: 17-42544220-G-A
• MyVariant Identifiers: chr17:g.40696238G>A (hg19) ; chr17:g.42544220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544220G>A , CM000679.2:g.42544220G>A	GRCh38
NC_000017.10:g.40696238G>A , CM000679.1:g.40696238G>A	GRCh37
NC_000017.9:g.37949764G>A	NCBI36
NG_011552.1:g.13288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2214G>A MANE Select	ENSP00000225927.1:p.Trp738Ter
ENST00000225927.6:c.2214G>A	ENSP00000225927.1:p.Trp738Ter
NM_000263.3:c.2214G>A	NP_000254.2:p.Trp738Ter
XM_006721920.2:c.1383G>A	XP_006721983.1:p.Trp461Ter
XM_011524840.1:c.1215G>A	XP_011523142.1:p.Trp405Ter
XM_017024687.1:c.1383G>A	XP_016880176.1:p.Trp461Ter
XM_024450771.1:c.2271G>A	XP_024306539.1:p.Trp757Ter
XM_024450772.1:c.1215G>A	XP_024306540.1:p.Trp405Ter
NM_000263.4:c.2214G>A MANE Select	NP_000254.2:p.Trp738Ter