Canonical Allele Identifier: CA8577023

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 522295
• ClinVar RCV Id: RCV000625281 ; RCV000761954 ; RCV001080068 ; RCV001701131 ; RCV003935737
• dbSNP Id: rs115994665
• ExAC: 17:40695470 G / A
• gnomAD v2: 17-40695470-G-A
• gnomAD v3: 17-42543452-G-A
• gnomAD v4: 17-42543452-G-A
• MyVariant Identifiers: chr17:g.40695470G>A (hg19) ; chr17:g.42543452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543452G>A , CM000679.2:g.42543452G>A	GRCh38
NC_000017.10:g.40695470G>A , CM000679.1:g.40695470G>A	GRCh37
NC_000017.9:g.37948996G>A	NCBI36
NG_011552.1:g.12520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1446G>A MANE Select	ENSP00000225927.1:p.Arg482=
ENST00000225927.6:c.1446G>A	ENSP00000225927.1:p.Arg482=
ENST00000591587.1:c.784G>A	ENSP00000467836.1:n.784G>A
ENST00000592454.1:c.485G>A
NM_000263.3:c.1446G>A	NP_000254.2:p.Arg482=
XM_006721920.2:c.615G>A	XP_006721983.1:p.Arg205=
XM_011524840.1:c.447G>A	XP_011523142.1:p.Arg149=
XM_017024687.1:c.615G>A	XP_016880176.1:p.Arg205=
XM_024450771.1:c.1503G>A	XP_024306539.1:p.Arg501=
XM_024450772.1:c.447G>A	XP_024306540.1:p.Arg149=
NM_000263.4:c.1446G>A MANE Select	NP_000254.2:p.Arg482=