Canonical Allele Identifier: CA399606186

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544119G>A , CM000679.2:g.42544119G>A	GRCh38
NC_000017.10:g.40696137G>A , CM000679.1:g.40696137G>A	GRCh37
NC_000017.9:g.37949663G>A	NCBI36
NG_011552.1:g.13187G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.2113G>A MANE Select	NP_000254.2:p.Glu705Lys
ENST00000225927.7:c.2113G>A MANE Select	ENSP00000225927.1:p.Glu705Lys
NM_000263.3:c.2113G>A	NP_000254.2:p.Glu705Lys
ENST00000225927.6:c.2113G>A	ENSP00000225927.1:p.Glu705Lys
ENST00000591587.1:c.1451G>A	ENSP00000467836.1:n.1451G>A
XM_006721920.2:c.1282G>A	XP_006721983.1:p.Glu428Lys
XM_011524840.1:c.1114G>A	XP_011523142.1:p.Glu372Lys
XM_017024687.1:c.1282G>A	XP_016880176.1:p.Glu428Lys
XM_024450771.1:c.2170G>A	XP_024306539.1:p.Glu724Lys
XM_024450772.1:c.1114G>A	XP_024306540.1:p.Glu372Lys