Canonical Allele Identifier: CA290778794

Gene: NAGLU

Linked Data

• dbSNP Id: rs1034859936
• gnomAD v4: 17-42541182-G-A
• MyVariant Identifiers: chr17:g.40693200G>A (hg19) ; chr17:g.42541182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541182G>A , CM000679.2:g.42541182G>A	GRCh38
NC_000017.10:g.40693200G>A , CM000679.1:g.40693200G>A	GRCh37
NC_000017.9:g.37946726G>A	NCBI36
NG_011552.1:g.10250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.997G>A MANE Select	ENSP00000225927.1:p.Ala333Thr
ENST00000225927.6:c.997G>A	ENSP00000225927.1:p.Ala333Thr
ENST00000591587.1:c.360-1846G>A	ENSP00000467836.1:n.360-1846G>A
ENST00000592454.1:c.92G>A
NM_000263.3:c.997G>A	NP_000254.2:p.Ala333Thr
XM_006721920.2:c.166G>A	XP_006721983.1:p.Ala56Thr
XM_011524840.1:c.23-1846G>A	XP_011523142.1:n.23-1846G>A
XM_017024687.1:c.166G>A	XP_016880176.1:p.Ala56Thr
XM_024450771.1:c.1054G>A	XP_024306539.1:p.Ala352Thr
XM_024450772.1:c.23-1846G>A	XP_024306540.1:n.23-1846G>A
NM_000263.4:c.997G>A MANE Select	NP_000254.2:p.Ala333Thr