Canonical Allele Identifier: CA2260527815

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538347G= , CM000679.2:g.42538347G=	GRCh38
NC_000017.10:g.40690365G= , CM000679.1:g.40690365G=	GRCh37
NC_000017.9:g.37943891G=	NCBI36
NG_011552.1:g.7415G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.540G= MANE Select	ENSP00000225927.1:p.Leu180=
ENST00000225927.6:c.540G=	ENSP00000225927.1:p.Leu180=
ENST00000586516.5:c.142G=
ENST00000590358.1:c.228G=	ENSP00000466892.1:p.Leu76=
ENST00000591587.1:c.135G=	ENSP00000467836.1:p.Leu45=
NM_000263.3:c.540G=	NP_000254.2:p.Leu180=
XM_006721920.2:c.-203G=	XP_006721983.1:n.-203G=
XM_011524840.1:c.-203G=	XP_011523142.1:n.-203G=
XM_017024687.1:c.-203G=	XP_016880176.1:n.-203G=
XM_024450771.1:c.597G=	XP_024306539.1:p.Leu199=
XM_024450772.1:c.-203G=	XP_024306540.1:n.-203G=
NM_000263.4:c.540G= MANE Select	NP_000254.2:p.Leu180=