Canonical Allele Identifier: CA8577019

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 290578
• ClinVar RCV Id: RCV000284729 ; RCV000765355 ; RCV001124069 ; RCV001252583
• dbSNP Id: rs147293270
• ExAC: 17:40695462 G / A
• gnomAD v2: 17-40695462-G-A
• gnomAD v3: 17-42543444-G-A
• gnomAD v4: 17-42543444-G-A
• MyVariant Identifiers: chr17:g.40695462G>A (hg19) ; chr17:g.42543444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543444G>A , CM000679.2:g.42543444G>A	GRCh38
NC_000017.10:g.40695462G>A , CM000679.1:g.40695462G>A	GRCh37
NC_000017.9:g.37948988G>A	NCBI36
NG_011552.1:g.12512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1438G>A MANE Select	ENSP00000225927.1:p.Ala480Thr
ENST00000225927.6:c.1438G>A	ENSP00000225927.1:p.Ala480Thr
ENST00000591587.1:c.776G>A	ENSP00000467836.1:n.776G>A
ENST00000592454.1:c.477G>A
NM_000263.3:c.1438G>A	NP_000254.2:p.Ala480Thr
XM_006721920.2:c.607G>A	XP_006721983.1:p.Ala203Thr
XM_011524840.1:c.439G>A	XP_011523142.1:p.Ala147Thr
XM_017024687.1:c.607G>A	XP_016880176.1:p.Ala203Thr
XM_024450771.1:c.1495G>A	XP_024306539.1:p.Ala499Thr
XM_024450772.1:c.439G>A	XP_024306540.1:p.Ala147Thr
NM_000263.4:c.1438G>A MANE Select	NP_000254.2:p.Ala480Thr