Canonical Allele Identifier: CA399600227

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541111A>G , CM000679.2:g.42541111A>G	GRCh38
NC_000017.10:g.40693129A>G , CM000679.1:g.40693129A>G	GRCh37
NC_000017.9:g.37946655A>G	NCBI36
NG_011552.1:g.10179A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.926A>G MANE Select	NP_000254.2:p.Tyr309Cys
ENST00000225927.7:c.926A>G MANE Select	ENSP00000225927.1:p.Tyr309Cys
NM_000263.3:c.926A>G	NP_000254.2:p.Tyr309Cys
ENST00000225927.6:c.926A>G	ENSP00000225927.1:p.Tyr309Cys
ENST00000591587.1:c.360-1917A>G	ENSP00000467836.1:n.360-1917A>G
ENST00000592454.1:c.21A>G
XM_006721920.2:c.95A>G	XP_006721983.1:p.Tyr32Cys
XM_011524840.1:c.23-1917A>G	XP_011523142.1:n.23-1917A>G
XM_017024687.1:c.95A>G	XP_016880176.1:p.Tyr32Cys
XM_024450771.1:c.983A>G	XP_024306539.1:p.Tyr328Cys
XM_024450772.1:c.23-1917A>G	XP_024306540.1:n.23-1917A>G