Canonical Allele Identifier: CA399605834

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696031C>A (hg19) ; chr17:g.42544013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544013C>A , CM000679.2:g.42544013C>A	GRCh38
NC_000017.10:g.40696031C>A , CM000679.1:g.40696031C>A	GRCh37
NC_000017.9:g.37949557C>A	NCBI36
NG_011552.1:g.13081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2007C>A MANE Select	ENSP00000225927.1:p.Asn669Lys
ENST00000225927.6:c.2007C>A	ENSP00000225927.1:p.Asn669Lys
ENST00000591587.1:c.1345C>A	ENSP00000467836.1:n.1345C>A
NM_000263.3:c.2007C>A	NP_000254.2:p.Asn669Lys
XM_006721920.2:c.1176C>A	XP_006721983.1:p.Asn392Lys
XM_011524840.1:c.1008C>A	XP_011523142.1:p.Asn336Lys
XM_017024687.1:c.1176C>A	XP_016880176.1:p.Asn392Lys
XM_024450771.1:c.2064C>A	XP_024306539.1:p.Asn688Lys
XM_024450772.1:c.1008C>A	XP_024306540.1:p.Asn336Lys
NM_000263.4:c.2007C>A MANE Select	NP_000254.2:p.Asn669Lys