Canonical Allele Identifier: CA399605492

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2089469
• ClinVar RCV Id: RCV003003160
• gnomAD v4: 17-42543929-C-G
• MyVariant Identifiers: chr17:g.40695947C>G (hg19) ; chr17:g.42543929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543929C>G , CM000679.2:g.42543929C>G	GRCh38
NC_000017.10:g.40695947C>G , CM000679.1:g.40695947C>G	GRCh37
NC_000017.9:g.37949473C>G	NCBI36
NG_011552.1:g.12997C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1923C>G MANE Select	ENSP00000225927.1:p.Asn641Lys
ENST00000225927.6:c.1923C>G	ENSP00000225927.1:p.Asn641Lys
ENST00000591587.1:c.1261C>G	ENSP00000467836.1:n.1261C>G
NM_000263.3:c.1923C>G	NP_000254.2:p.Asn641Lys
XM_006721920.2:c.1092C>G	XP_006721983.1:p.Asn364Lys
XM_011524840.1:c.924C>G	XP_011523142.1:p.Asn308Lys
XM_017024687.1:c.1092C>G	XP_016880176.1:p.Asn364Lys
XM_024450771.1:c.1980C>G	XP_024306539.1:p.Asn660Lys
XM_024450772.1:c.924C>G	XP_024306540.1:p.Asn308Lys
NM_000263.4:c.1923C>G MANE Select	NP_000254.2:p.Asn641Lys