Canonical Allele Identifier: CA399600115

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541060G>A , CM000679.2:g.42541060G>A	GRCh38
NC_000017.10:g.40693078G>A , CM000679.1:g.40693078G>A	GRCh37
NC_000017.9:g.37946604G>A	NCBI36
NG_011552.1:g.10128G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.875G>A MANE Select	NP_000254.2:p.Gly292Glu
ENST00000225927.7:c.875G>A MANE Select	ENSP00000225927.1:p.Gly292Glu
NM_000263.3:c.875G>A	NP_000254.2:p.Gly292Glu
ENST00000225927.6:c.875G>A	ENSP00000225927.1:p.Gly292Glu
ENST00000586516.5:c.477G>A
ENST00000591587.1:c.360-1968G>A	ENSP00000467836.1:n.360-1968G>A
XM_006721920.2:c.44G>A	XP_006721983.1:p.Gly15Glu
XM_011524840.1:c.23-1968G>A	XP_011523142.1:n.23-1968G>A
XM_017024687.1:c.44G>A	XP_016880176.1:p.Gly15Glu
XM_024450771.1:c.932G>A	XP_024306539.1:p.Gly311Glu
XM_024450772.1:c.23-1968G>A	XP_024306540.1:n.23-1968G>A