Canonical Allele Identifier: CA399600268

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1425197
• ClinVar RCV Id: RCV001924339
• dbSNP Id: rs2143099484
• MyVariant Identifiers: chr17:g.40693149G>A (hg19) ; chr17:g.42541131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541131G>A , CM000679.2:g.42541131G>A	GRCh38
NC_000017.10:g.40693149G>A , CM000679.1:g.40693149G>A	GRCh37
NC_000017.9:g.37946675G>A	NCBI36
NG_011552.1:g.10199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.946G>A MANE Select	ENSP00000225927.1:p.Glu316Lys
ENST00000225927.6:c.946G>A	ENSP00000225927.1:p.Glu316Lys
ENST00000591587.1:c.360-1897G>A	ENSP00000467836.1:n.360-1897G>A
ENST00000592454.1:c.41G>A
NM_000263.3:c.946G>A	NP_000254.2:p.Glu316Lys
XM_006721920.2:c.115G>A	XP_006721983.1:p.Glu39Lys
XM_011524840.1:c.23-1897G>A	XP_011523142.1:n.23-1897G>A
XM_017024687.1:c.115G>A	XP_016880176.1:p.Glu39Lys
XM_024450771.1:c.1003G>A	XP_024306539.1:p.Glu335Lys
XM_024450772.1:c.23-1897G>A	XP_024306540.1:n.23-1897G>A
NM_000263.4:c.946G>A MANE Select	NP_000254.2:p.Glu316Lys