Canonical Allele Identifier: CA399600335

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541159-C-G
• MyVariant Identifiers: chr17:g.40693177C>G (hg19) ; chr17:g.42541159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541159C>G , CM000679.2:g.42541159C>G	GRCh38
NC_000017.10:g.40693177C>G , CM000679.1:g.40693177C>G	GRCh37
NC_000017.9:g.37946703C>G	NCBI36
NG_011552.1:g.10227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.974C>G MANE Select	ENSP00000225927.1:p.Ser325Cys
ENST00000225927.6:c.974C>G	ENSP00000225927.1:p.Ser325Cys
ENST00000591587.1:c.360-1869C>G	ENSP00000467836.1:n.360-1869C>G
ENST00000592454.1:c.69C>G
NM_000263.3:c.974C>G	NP_000254.2:p.Ser325Cys
XM_006721920.2:c.143C>G	XP_006721983.1:p.Ser48Cys
XM_011524840.1:c.23-1869C>G	XP_011523142.1:n.23-1869C>G
XM_017024687.1:c.143C>G	XP_016880176.1:p.Ser48Cys
XM_024450771.1:c.1031C>G	XP_024306539.1:p.Ser344Cys
XM_024450772.1:c.23-1869C>G	XP_024306540.1:n.23-1869C>G
NM_000263.4:c.974C>G MANE Select	NP_000254.2:p.Ser325Cys