Canonical Allele Identifier: CA355962816

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002145C>A , CM000666.2:g.1002145C>A	GRCh38
NC_000004.11:g.995933C>A , CM000666.1:g.995933C>A	GRCh37
NC_000004.10:g.985933C>A	NCBI36
NG_008103.1:g.20149C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.956C>A MANE Select	NP_000194.2:p.Ala319Glu
ENST00000514224.2:c.956C>A MANE Select	ENSP00000425081.2:p.Ala319Glu
NM_000203.4:c.956C>A	NP_000194.2:p.Ala319Glu
NM_001363576.1:c.560C>A	NP_001350505.1:p.Ala187Glu
NR_110313.1:n.1044C>A
ENST00000247933.8:c.956C>A	ENSP00000247933.4:p.Ala319Glu
ENST00000247933.9:c.956C>A	ENSP00000247933.4:p.Ala319Glu
ENST00000514224.1:c.560C>A	ENSP00000425081.1:p.Ala187Glu
ENST00000514698.5:n.956C>A
ENST00000652070.1:n.1012C>A
XM_006713882.2:c.560C>A	XP_006713945.1:p.Ala187Glu
XM_011513459.1:c.915C>A	XP_011511761.1:p.Arg305=
XM_011513460.1:c.815C>A	XP_011511762.1:p.Ala272Glu
XM_011513461.1:c.749C>A	XP_011511763.1:p.Ala250Glu
XM_011513461.2:c.749C>A	XP_011511763.1:p.Ala250Glu
XM_011513462.1:c.668C>A	XP_011511764.1:p.Ala223Glu
XM_011513463.1:c.668C>A	XP_011511765.1:p.Ala223Glu
XM_017008163.1:c.-5C>A	XP_016863652.1:n.-5C>A
XR_924947.1:n.1025C>A