Canonical Allele Identifier: CA500217320

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2945048
• ClinVar RCV Id: RCV003800702
• MyVariant Identifiers: chr17:g.40696109C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544091C>T , CM000679.2:g.42544091C>T	GRCh38
NC_000017.10:g.40696109C>T , CM000679.1:g.40696109C>T	GRCh37
NC_000017.9:g.37949635C>T	NCBI36
NG_011552.1:g.13159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2085C>T MANE Select	ENSP00000225927.1:p.His695=
ENST00000225927.6:c.2085C>T	ENSP00000225927.1:p.His695=
ENST00000591587.1:c.1423C>T	ENSP00000467836.1:n.1423C>T
NM_000263.3:c.2085C>T	NP_000254.2:p.His695=
XM_006721920.2:c.1254C>T	XP_006721983.1:p.His418=
XM_011524840.1:c.1086C>T	XP_011523142.1:p.His362=
XM_017024687.1:c.1254C>T	XP_016880176.1:p.His418=
XM_024450771.1:c.2142C>T	XP_024306539.1:p.His714=
XM_024450772.1:c.1086C>T	XP_024306540.1:p.His362=
NM_000263.4:c.2085C>T MANE Select	NP_000254.2:p.His695=