Canonical Allele Identifier: CA500218234

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2930946
• ClinVar RCV Id: RCV003782208
• dbSNP Id: rs1310530729
• gnomAD v2: 17-40696229-C-T
• gnomAD v4: 17-42544211-C-T
• MyVariant Identifiers: chr17:g.40696229C>T (hg19) ; chr17:g.42544211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544211C>T , CM000679.2:g.42544211C>T	GRCh38
NC_000017.10:g.40696229C>T , CM000679.1:g.40696229C>T	GRCh37
NC_000017.9:g.37949755C>T	NCBI36
NG_011552.1:g.13279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2205C>T MANE Select	ENSP00000225927.1:p.Tyr735=
ENST00000225927.6:c.2205C>T	ENSP00000225927.1:p.Tyr735=
NM_000263.3:c.2205C>T	NP_000254.2:p.Tyr735=
XM_006721920.2:c.1374C>T	XP_006721983.1:p.Tyr458=
XM_011524840.1:c.1206C>T	XP_011523142.1:p.Tyr402=
XM_017024687.1:c.1374C>T	XP_016880176.1:p.Tyr458=
XM_024450771.1:c.2262C>T	XP_024306539.1:p.Tyr754=
XM_024450772.1:c.1206C>T	XP_024306540.1:p.Tyr402=
NM_000263.4:c.2205C>T MANE Select	NP_000254.2:p.Tyr735=