Canonical Allele Identifier: CA399598206

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537496G>A , CM000679.2:g.42537496G>A	GRCh38
NC_000017.10:g.40689514G>A , CM000679.1:g.40689514G>A	GRCh37
NC_000017.9:g.37943040G>A	NCBI36
NG_011552.1:g.6564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.482G>A MANE Select	NP_000254.2:p.Gly161Asp
ENST00000225927.7:c.482G>A MANE Select	ENSP00000225927.1:p.Gly161Asp
NM_000263.3:c.482G>A	NP_000254.2:p.Gly161Asp
ENST00000225927.6:c.482G>A	ENSP00000225927.1:p.Gly161Asp
ENST00000586516.5:c.133+841G>A
ENST00000590358.1:c.170G>A	ENSP00000466892.1:p.Gly57Asp
ENST00000591587.1:c.126+841G>A	ENSP00000467836.1:n.126+841G>A
XM_006721920.2:c.-261G>A	XP_006721983.1:n.-261G>A
XM_011524840.1:c.-261G>A	XP_011523142.1:n.-261G>A
XM_017024687.1:c.-261G>A	XP_016880176.1:n.-261G>A
XM_024450771.1:c.539G>A	XP_024306539.1:p.Gly180Asp
XM_024450772.1:c.-261G>A	XP_024306540.1:n.-261G>A