Canonical Allele Identifier: CA500217204

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2009597
• ClinVar RCV Id: RCV002842521
• gnomAD v4: 17-42543717-C-T
• MyVariant Identifiers: chr17:g.40695735C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543717C>T , CM000679.2:g.42543717C>T	GRCh38
NC_000017.10:g.40695735C>T , CM000679.1:g.40695735C>T	GRCh37
NC_000017.9:g.37949261C>T	NCBI36
NG_011552.1:g.12785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1711C>T MANE Select	ENSP00000225927.1:p.Leu571=
ENST00000225927.6:c.1711C>T	ENSP00000225927.1:p.Leu571=
ENST00000591587.1:c.1049C>T	ENSP00000467836.1:n.1049C>T
NM_000263.3:c.1711C>T	NP_000254.2:p.Leu571=
XM_006721920.2:c.880C>T	XP_006721983.1:p.Leu294=
XM_011524840.1:c.712C>T	XP_011523142.1:p.Leu238=
XM_017024687.1:c.880C>T	XP_016880176.1:p.Leu294=
XM_024450771.1:c.1768C>T	XP_024306539.1:p.Leu590=
XM_024450772.1:c.712C>T	XP_024306540.1:p.Leu238=
NM_000263.4:c.1711C>T MANE Select	NP_000254.2:p.Leu571=