Canonical Allele Identifier: CA220553

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 92695
• ClinVar RCV Id: RCV000078459 ; RCV000664563 ; RCV002514378
• dbSNP Id: rs398123281
• MyVariant Identifiers: chr17:g.40689535G>A (hg19) ; chr17:g.42537517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537517G>A , CM000679.2:g.42537517G>A	GRCh38
NC_000017.10:g.40689535G>A , CM000679.1:g.40689535G>A	GRCh37
NC_000017.9:g.37943061G>A	NCBI36
NG_011552.1:g.6585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.503G>A MANE Select	ENSP00000225927.1:p.Trp168Ter
ENST00000225927.6:c.503G>A	ENSP00000225927.1:p.Trp168Ter
ENST00000586516.5:c.134-822G>A
ENST00000590358.1:c.191G>A	ENSP00000466892.1:p.Trp64Ter
ENST00000591587.1:c.127-822G>A	ENSP00000467836.1:n.127-822G>A
NM_000263.3:c.503G>A	NP_000254.2:p.Trp168Ter
XM_006721920.2:c.-240G>A	XP_006721983.1:n.-240G>A
XM_011524840.1:c.-240G>A	XP_011523142.1:n.-240G>A
XM_017024687.1:c.-240G>A	XP_016880176.1:n.-240G>A
XM_024450771.1:c.560G>A	XP_024306539.1:p.Trp187Ter
XM_024450772.1:c.-240G>A	XP_024306540.1:n.-240G>A
NM_000263.4:c.503G>A MANE Select	NP_000254.2:p.Trp168Ter