Canonical Allele Identifier: CA500216964

Gene: NAGLU

Linked Data

• dbSNP Id: rs1265820493
• gnomAD v2: 17-40696241-G-A
• MyVariant Identifiers: chr17:g.40696241G>A (hg19) ; chr17:g.42544223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544223G>A , CM000679.2:g.42544223G>A	GRCh38
NC_000017.10:g.40696241G>A , CM000679.1:g.40696241G>A	GRCh37
NC_000017.9:g.37949767G>A	NCBI36
NG_011552.1:g.13291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2217G>A MANE Select	ENSP00000225927.1:p.Val739=
ENST00000225927.6:c.2217G>A	ENSP00000225927.1:p.Val739=
NM_000263.3:c.2217G>A	NP_000254.2:p.Val739=
XM_006721920.2:c.1386G>A	XP_006721983.1:p.Val462=
XM_011524840.1:c.1218G>A	XP_011523142.1:p.Val406=
XM_017024687.1:c.1386G>A	XP_016880176.1:p.Val462=
XM_024450771.1:c.2274G>A	XP_024306539.1:p.Val758=
XM_024450772.1:c.1218G>A	XP_024306540.1:p.Val406=
NM_000263.4:c.2217G>A MANE Select	NP_000254.2:p.Val739=