Canonical Allele Identifier: CA500217015

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1995850
• ClinVar RCV Id: RCV002801607
• MyVariant Identifiers: chr17:g.40695521G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543503G>A , CM000679.2:g.42543503G>A	GRCh38
NC_000017.10:g.40695521G>A , CM000679.1:g.40695521G>A	GRCh37
NC_000017.9:g.37949047G>A	NCBI36
NG_011552.1:g.12571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1497G>A MANE Select	ENSP00000225927.1:p.Arg499=
ENST00000225927.6:c.1497G>A	ENSP00000225927.1:p.Arg499=
ENST00000591587.1:c.835G>A	ENSP00000467836.1:n.835G>A
ENST00000592454.1:c.536G>A
NM_000263.3:c.1497G>A	NP_000254.2:p.Arg499=
XM_006721920.2:c.666G>A	XP_006721983.1:p.Arg222=
XM_011524840.1:c.498G>A	XP_011523142.1:p.Arg166=
XM_017024687.1:c.666G>A	XP_016880176.1:p.Arg222=
XM_024450771.1:c.1554G>A	XP_024306539.1:p.Arg518=
XM_024450772.1:c.498G>A	XP_024306540.1:p.Arg166=
NM_000263.4:c.1497G>A MANE Select	NP_000254.2:p.Arg499=