Canonical Allele Identifier: CA500217101

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1711438
• ClinVar RCV Id: RCV002292954 ; RCV003774977
• gnomAD v4: 17-42543620-G-A
• MyVariant Identifiers: chr17:g.40695638G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543620G>A , CM000679.2:g.42543620G>A	GRCh38
NC_000017.10:g.40695638G>A , CM000679.1:g.40695638G>A	GRCh37
NC_000017.9:g.37949164G>A	NCBI36
NG_011552.1:g.12688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1614G>A MANE Select	ENSP00000225927.1:p.Glu538=
ENST00000225927.6:c.1614G>A	ENSP00000225927.1:p.Glu538=
ENST00000591587.1:c.952G>A	ENSP00000467836.1:n.952G>A
NM_000263.3:c.1614G>A	NP_000254.2:p.Glu538=
XM_006721920.2:c.783G>A	XP_006721983.1:p.Glu261=
XM_011524840.1:c.615G>A	XP_011523142.1:p.Glu205=
XM_017024687.1:c.783G>A	XP_016880176.1:p.Glu261=
XM_024450771.1:c.1671G>A	XP_024306539.1:p.Glu557=
XM_024450772.1:c.615G>A	XP_024306540.1:p.Glu205=
NM_000263.4:c.1614G>A MANE Select	NP_000254.2:p.Glu538=