Canonical Allele Identifier: CA399606543

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2235599
• ClinVar RCV Id: RCV002731918
• gnomAD v4: 17-42544231-C-G
• MyVariant Identifiers: chr17:g.40696249C>G (hg19) ; chr17:g.42544231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544231C>G , CM000679.2:g.42544231C>G	GRCh38
NC_000017.10:g.40696249C>G , CM000679.1:g.40696249C>G	GRCh37
NC_000017.9:g.37949775C>G	NCBI36
NG_011552.1:g.13299C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2225C>G MANE Select	ENSP00000225927.1:p.Ser742Cys
ENST00000225927.6:c.2225C>G	ENSP00000225927.1:p.Ser742Cys
NM_000263.3:c.2225C>G	NP_000254.2:p.Ser742Cys
XM_006721920.2:c.1394C>G	XP_006721983.1:p.Ser465Cys
XM_011524840.1:c.1226C>G	XP_011523142.1:p.Ser409Cys
XM_017024687.1:c.1394C>G	XP_016880176.1:p.Ser465Cys
XM_024450771.1:c.2282C>G	XP_024306539.1:p.Ser761Cys
XM_024450772.1:c.1226C>G	XP_024306540.1:p.Ser409Cys
NM_000263.4:c.2225C>G MANE Select	NP_000254.2:p.Ser742Cys