Canonical Allele Identifier: CA500217305

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2939401
• ClinVar RCV Id: RCV003794567
• dbSNP Id: rs2092930476
• gnomAD v4: 17-42544082-C-T
• MyVariant Identifiers: chr17:g.40696100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544082C>T , CM000679.2:g.42544082C>T	GRCh38
NC_000017.10:g.40696100C>T , CM000679.1:g.40696100C>T	GRCh37
NC_000017.9:g.37949626C>T	NCBI36
NG_011552.1:g.13150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2076C>T MANE Select	ENSP00000225927.1:p.Phe692=
ENST00000225927.6:c.2076C>T	ENSP00000225927.1:p.Phe692=
ENST00000591587.1:c.1414C>T	ENSP00000467836.1:n.1414C>T
NM_000263.3:c.2076C>T	NP_000254.2:p.Phe692=
XM_006721920.2:c.1245C>T	XP_006721983.1:p.Phe415=
XM_011524840.1:c.1077C>T	XP_011523142.1:p.Phe359=
XM_017024687.1:c.1245C>T	XP_016880176.1:p.Phe415=
XM_024450771.1:c.2133C>T	XP_024306539.1:p.Phe711=
XM_024450772.1:c.1077C>T	XP_024306540.1:p.Phe359=
NM_000263.4:c.2076C>T MANE Select	NP_000254.2:p.Phe692=