Canonical Allele Identifier: CA8577157

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1531276
• ClinVar RCV Id: RCV002099623
• dbSNP Id: rs766039758
• ExAC: 17:40696220 C / T
• gnomAD v2: 17-40696220-C-T
• gnomAD v4: 17-42544202-C-T
• MyVariant Identifiers: chr17:g.40696220C>T (hg19) ; chr17:g.42544202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544202C>T , CM000679.2:g.42544202C>T	GRCh38
NC_000017.10:g.40696220C>T , CM000679.1:g.40696220C>T	GRCh37
NC_000017.9:g.37949746C>T	NCBI36
NG_011552.1:g.13270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2196C>T MANE Select	ENSP00000225927.1:p.Leu732=
ENST00000225927.6:c.2196C>T	ENSP00000225927.1:p.Leu732=
NM_000263.3:c.2196C>T	NP_000254.2:p.Leu732=
XM_006721920.2:c.1365C>T	XP_006721983.1:p.Leu455=
XM_011524840.1:c.1197C>T	XP_011523142.1:p.Leu399=
XM_017024687.1:c.1365C>T	XP_016880176.1:p.Leu455=
XM_024450771.1:c.2253C>T	XP_024306539.1:p.Leu751=
XM_024450772.1:c.1197C>T	XP_024306540.1:p.Leu399=
NM_000263.4:c.2196C>T MANE Select	NP_000254.2:p.Leu732=