Canonical Allele Identifier: CA8577163

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1089785
• ClinVar RCV Id: RCV001408729
• dbSNP Id: rs756351696
• ExAC: 17:40696244 C / T
• gnomAD v2: 17-40696244-C-T
• gnomAD v3: 17-42544226-C-T
• gnomAD v4: 17-42544226-C-T
• MyVariant Identifiers: chr17:g.40696244C>T (hg19) ; chr17:g.42544226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544226C>T , CM000679.2:g.42544226C>T	GRCh38
NC_000017.10:g.40696244C>T , CM000679.1:g.40696244C>T	GRCh37
NC_000017.9:g.37949770C>T	NCBI36
NG_011552.1:g.13294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2220C>T MANE Select	ENSP00000225927.1:p.Ala740=
ENST00000225927.6:c.2220C>T	ENSP00000225927.1:p.Ala740=
NM_000263.3:c.2220C>T	NP_000254.2:p.Ala740=
XM_006721920.2:c.1389C>T	XP_006721983.1:p.Ala463=
XM_011524840.1:c.1221C>T	XP_011523142.1:p.Ala407=
XM_017024687.1:c.1389C>T	XP_016880176.1:p.Ala463=
XM_024450771.1:c.2277C>T	XP_024306539.1:p.Ala759=
XM_024450772.1:c.1221C>T	XP_024306540.1:p.Ala407=
NM_000263.4:c.2220C>T MANE Select	NP_000254.2:p.Ala740=