Canonical Allele Identifier: CA220552

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 92691
• ClinVar RCV Id: RCV000078454 ; RCV001854380
• dbSNP Id: rs375103824
• ExAC: 17:40695388 A / G
• gnomAD v2: 17-40695388-A-G
• gnomAD v4: 17-42543370-A-G
• MyVariant Identifiers: chr17:g.40695388A>G (hg19) ; chr17:g.42543370A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543370A>G , CM000679.2:g.42543370A>G	GRCh38
NC_000017.10:g.40695388A>G , CM000679.1:g.40695388A>G	GRCh37
NC_000017.9:g.37948914A>G	NCBI36
NG_011552.1:g.12438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1364A>G MANE Select	ENSP00000225927.1:p.Tyr455Cys
ENST00000225927.6:c.1364A>G	ENSP00000225927.1:p.Tyr455Cys
ENST00000591587.1:c.702A>G	ENSP00000467836.1:n.702A>G
ENST00000592454.1:c.403A>G
NM_000263.3:c.1364A>G	NP_000254.2:p.Tyr455Cys
XM_006721920.2:c.533A>G	XP_006721983.1:p.Tyr178Cys
XM_011524840.1:c.365A>G	XP_011523142.1:p.Tyr122Cys
XM_017024687.1:c.533A>G	XP_016880176.1:p.Tyr178Cys
XM_024450771.1:c.1421A>G	XP_024306539.1:p.Tyr474Cys
XM_024450772.1:c.365A>G	XP_024306540.1:p.Tyr122Cys
NM_000263.4:c.1364A>G MANE Select	NP_000254.2:p.Tyr455Cys