Canonical Allele Identifier: CA8576918

Gene: NAGLU

Linked Data

• dbSNP Id: rs780187288
• ExAC: 17:40693221 G / A
• gnomAD v4: 17-42541203-G-A
• MyVariant Identifiers: chr17:g.40693221G>A (hg19) ; chr17:g.42541203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541203G>A , CM000679.2:g.42541203G>A	GRCh38
NC_000017.10:g.40693221G>A , CM000679.1:g.40693221G>A	GRCh37
NC_000017.9:g.37946747G>A	NCBI36
NG_011552.1:g.10271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1018G>A MANE Select	ENSP00000225927.1:p.Ala340Thr
ENST00000225927.6:c.1018G>A	ENSP00000225927.1:p.Ala340Thr
ENST00000591587.1:c.360-1825G>A	ENSP00000467836.1:n.360-1825G>A
ENST00000592454.1:c.113G>A
NM_000263.3:c.1018G>A	NP_000254.2:p.Ala340Thr
XM_006721920.2:c.187G>A	XP_006721983.1:p.Ala63Thr
XM_011524840.1:c.23-1825G>A	XP_011523142.1:n.23-1825G>A
XM_017024687.1:c.187G>A	XP_016880176.1:p.Ala63Thr
XM_024450771.1:c.1075G>A	XP_024306539.1:p.Ala359Thr
XM_024450772.1:c.23-1825G>A	XP_024306540.1:n.23-1825G>A
NM_000263.4:c.1018G>A MANE Select	NP_000254.2:p.Ala340Thr