Canonical Allele Identifier: CA399603981

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543495C>G , CM000679.2:g.42543495C>G	GRCh38
NC_000017.10:g.40695513C>G , CM000679.1:g.40695513C>G	GRCh37
NC_000017.9:g.37949039C>G	NCBI36
NG_011552.1:g.12563C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1489C>G MANE Select	NP_000254.2:p.Leu497Val
ENST00000225927.7:c.1489C>G MANE Select	ENSP00000225927.1:p.Leu497Val
NM_000263.3:c.1489C>G	NP_000254.2:p.Leu497Val
ENST00000225927.6:c.1489C>G	ENSP00000225927.1:p.Leu497Val
ENST00000591587.1:c.827C>G	ENSP00000467836.1:n.827C>G
ENST00000592454.1:c.528C>G
XM_006721920.2:c.658C>G	XP_006721983.1:p.Leu220Val
XM_011524840.1:c.490C>G	XP_011523142.1:p.Leu164Val
XM_017024687.1:c.658C>G	XP_016880176.1:p.Leu220Val
XM_024450771.1:c.1546C>G	XP_024306539.1:p.Leu516Val
XM_024450772.1:c.490C>G	XP_024306540.1:p.Leu164Val