Canonical Allele Identifier: CA399598023

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537422C>A , CM000679.2:g.42537422C>A	GRCh38
NC_000017.10:g.40689440C>A , CM000679.1:g.40689440C>A	GRCh37
NC_000017.9:g.37942966C>A	NCBI36
NG_011552.1:g.6490C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.408C>A MANE Select	NP_000254.2:p.Cys136Ter
ENST00000225927.7:c.408C>A MANE Select	ENSP00000225927.1:p.Cys136Ter
NM_000263.3:c.408C>A	NP_000254.2:p.Cys136Ter
ENST00000225927.6:c.408C>A	ENSP00000225927.1:p.Cys136Ter
ENST00000586516.5:c.133+767C>A
ENST00000590358.1:c.96C>A	ENSP00000466892.1:p.Cys32Ter
ENST00000591587.1:c.126+767C>A	ENSP00000467836.1:n.126+767C>A
XM_006721920.2:c.-335C>A	XP_006721983.1:n.-335C>A
XM_011524840.1:c.-335C>A	XP_011523142.1:n.-335C>A
XM_017024687.1:c.-335C>A	XP_016880176.1:n.-335C>A
XM_024450771.1:c.465C>A	XP_024306539.1:p.Cys155Ter
XM_024450772.1:c.-335C>A	XP_024306540.1:n.-335C>A