Canonical Allele Identifier: CA399597909

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537402C>T , CM000679.2:g.42537402C>T	GRCh38
NC_000017.10:g.40689420C>T , CM000679.1:g.40689420C>T	GRCh37
NC_000017.9:g.37942946C>T	NCBI36
NG_011552.1:g.6470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.388C>T MANE Select	NP_000254.2:p.Arg130Cys
ENST00000225927.7:c.388C>T MANE Select	ENSP00000225927.1:p.Arg130Cys
NM_000263.3:c.388C>T	NP_000254.2:p.Arg130Cys
ENST00000225927.6:c.388C>T	ENSP00000225927.1:p.Arg130Cys
ENST00000586516.5:c.133+747C>T
ENST00000590358.1:c.76C>T	ENSP00000466892.1:p.Arg26Cys
ENST00000591587.1:c.126+747C>T	ENSP00000467836.1:n.126+747C>T
XM_006721920.2:c.-355C>T	XP_006721983.1:n.-355C>T
XM_011524840.1:c.-355C>T	XP_011523142.1:n.-355C>T
XM_017024687.1:c.-355C>T	XP_016880176.1:n.-355C>T
XM_024450771.1:c.445C>T	XP_024306539.1:p.Arg149Cys
XM_024450772.1:c.-355C>T	XP_024306540.1:n.-355C>T