Canonical Allele Identifier: CA399604777

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543765-G-A
• MyVariant Identifiers: chr17:g.40695783G>A (hg19) ; chr17:g.42543765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543765G>A , CM000679.2:g.42543765G>A	GRCh38
NC_000017.10:g.40695783G>A , CM000679.1:g.40695783G>A	GRCh37
NC_000017.9:g.37949309G>A	NCBI36
NG_011552.1:g.12833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1759G>A MANE Select	ENSP00000225927.1:p.Glu587Lys
ENST00000225927.6:c.1759G>A	ENSP00000225927.1:p.Glu587Lys
ENST00000591587.1:c.1097G>A	ENSP00000467836.1:n.1097G>A
NM_000263.3:c.1759G>A	NP_000254.2:p.Glu587Lys
XM_006721920.2:c.928G>A	XP_006721983.1:p.Glu310Lys
XM_011524840.1:c.760G>A	XP_011523142.1:p.Glu254Lys
XM_017024687.1:c.928G>A	XP_016880176.1:p.Glu310Lys
XM_024450771.1:c.1816G>A	XP_024306539.1:p.Glu606Lys
XM_024450772.1:c.760G>A	XP_024306540.1:p.Glu254Lys
NM_000263.4:c.1759G>A MANE Select	NP_000254.2:p.Glu587Lys