Canonical Allele Identifier: CA2260530619

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544120A= , CM000679.2:g.42544120A=	GRCh38
NC_000017.10:g.40696138A= , CM000679.1:g.40696138A=	GRCh37
NC_000017.9:g.37949664A=	NCBI36
NG_011552.1:g.13188A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2114A= MANE Select	ENSP00000225927.1:p.Glu705=
ENST00000225927.6:c.2114A=	ENSP00000225927.1:p.Glu705=
ENST00000591587.1:c.1452A=	ENSP00000467836.1:n.1452A=
NM_000263.3:c.2114A=	NP_000254.2:p.Glu705=
XM_006721920.2:c.1283A=	XP_006721983.1:p.Glu428=
XM_011524840.1:c.1115A=	XP_011523142.1:p.Glu372=
XM_017024687.1:c.1283A=	XP_016880176.1:p.Glu428=
XM_024450771.1:c.2171A=	XP_024306539.1:p.Glu724=
XM_024450772.1:c.1115A=	XP_024306540.1:p.Glu372=
NM_000263.4:c.2114A= MANE Select	NP_000254.2:p.Glu705=