Canonical Allele Identifier: CA399600895

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543047G>A , CM000679.2:g.42543047G>A	GRCh38
NC_000017.10:g.40695065G>A , CM000679.1:g.40695065G>A	GRCh37
NC_000017.9:g.37948591G>A	NCBI36
NG_011552.1:g.12115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1041G>A MANE Select	NP_000254.2:p.Trp347Ter
ENST00000225927.7:c.1041G>A MANE Select	ENSP00000225927.1:p.Trp347Ter
NM_000263.3:c.1041G>A	NP_000254.2:p.Trp347Ter
ENST00000225927.6:c.1041G>A	ENSP00000225927.1:p.Trp347Ter
ENST00000591587.1:c.379G>A	ENSP00000467836.1:n.379G>A
ENST00000592454.1:c.117-37G>A
XM_006721920.2:c.210G>A	XP_006721983.1:p.Trp70Ter
XM_011524840.1:c.42G>A	XP_011523142.1:p.Trp14Ter
XM_017024687.1:c.210G>A	XP_016880176.1:p.Trp70Ter
XM_024450771.1:c.1098G>A	XP_024306539.1:p.Trp366Ter
XM_024450772.1:c.42G>A	XP_024306540.1:p.Trp14Ter