Canonical Allele Identifier: CA399604880

Gene: NAGLU

Linked Data

• dbSNP Id: rs1243561393
• gnomAD v2: 17-40695811-G-A
• COSMIC: COSM4066577
• MyVariant Identifiers: chr17:g.40695811G>A (hg19) ; chr17:g.42543793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543793G>A , CM000679.2:g.42543793G>A	GRCh38
NC_000017.10:g.40695811G>A , CM000679.1:g.40695811G>A	GRCh37
NC_000017.9:g.37949337G>A	NCBI36
NG_011552.1:g.12861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1787G>A MANE Select	ENSP00000225927.1:p.Gly596Asp
ENST00000225927.6:c.1787G>A	ENSP00000225927.1:p.Gly596Asp
ENST00000591587.1:c.1125G>A	ENSP00000467836.1:n.1125G>A
NM_000263.3:c.1787G>A	NP_000254.2:p.Gly596Asp
XM_006721920.2:c.956G>A	XP_006721983.1:p.Gly319Asp
XM_011524840.1:c.788G>A	XP_011523142.1:p.Gly263Asp
XM_017024687.1:c.956G>A	XP_016880176.1:p.Gly319Asp
XM_024450771.1:c.1844G>A	XP_024306539.1:p.Gly615Asp
XM_024450772.1:c.788G>A	XP_024306540.1:p.Gly263Asp
NM_000263.4:c.1787G>A MANE Select	NP_000254.2:p.Gly596Asp