Canonical Allele Identifier: CA8577039

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 323301
• ClinVar RCV Id: RCV000398123 ; RCV000915612
• dbSNP Id: rs537078152
• ExAC: 17:40695527 G / A
• gnomAD v2: 17-40695527-G-A
• gnomAD v3: 17-42543509-G-A
• gnomAD v4: 17-42543509-G-A
• MyVariant Identifiers: chr17:g.40695527G>A (hg19) ; chr17:g.42543509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543509G>A , CM000679.2:g.42543509G>A	GRCh38
NC_000017.10:g.40695527G>A , CM000679.1:g.40695527G>A	GRCh37
NC_000017.9:g.37949053G>A	NCBI36
NG_011552.1:g.12577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1503G>A MANE Select	ENSP00000225927.1:p.Val501=
ENST00000225927.6:c.1503G>A	ENSP00000225927.1:p.Val501=
ENST00000591587.1:c.841G>A	ENSP00000467836.1:n.841G>A
ENST00000592454.1:c.542G>A
NM_000263.3:c.1503G>A	NP_000254.2:p.Val501=
XM_006721920.2:c.672G>A	XP_006721983.1:p.Val224=
XM_011524840.1:c.504G>A	XP_011523142.1:p.Val168=
XM_017024687.1:c.672G>A	XP_016880176.1:p.Val224=
XM_024450771.1:c.1560G>A	XP_024306539.1:p.Val520=
XM_024450772.1:c.504G>A	XP_024306540.1:p.Val168=
NM_000263.4:c.1503G>A MANE Select	NP_000254.2:p.Val501=