Canonical Allele Identifier: CA1433068507

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002021G= , CM000666.2:g.1002021G=	GRCh38
NC_000004.11:g.995809G= , CM000666.1:g.995809G=	GRCh37
NC_000004.10:g.985809G=	NCBI36
NG_008103.1:g.20025G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.832G=	ENSP00000247933.4:p.Val278=
ENST00000514224.2:c.832G= MANE Select	ENSP00000425081.2:p.Val278=
ENST00000652070.1:n.888G=
ENST00000247933.8:c.832G=	ENSP00000247933.4:p.Val278=
ENST00000514192.5:c.649G=	ENSP00000423685.1:p.Val217=
ENST00000514224.1:c.436G=	ENSP00000425081.1:p.Val146=
ENST00000514698.5:n.832G=
NM_000203.4:c.832G=	NP_000194.2:p.Val278=
NR_110313.1:n.920G=
XM_006713882.2:c.436G=	XP_006713945.1:p.Val146=
XM_011513459.1:c.791G=	XP_011511761.1:p.Gly264=
XM_011513460.1:c.691G=	XP_011511762.1:p.Val231=
XM_011513461.1:c.625G=	XP_011511763.1:p.Val209=
XM_011513462.1:c.544G=	XP_011511764.1:p.Val182=
XM_011513463.1:c.544G=	XP_011511765.1:p.Val182=
XR_924947.1:n.901G=
NM_000203.5:c.832G= MANE Select	NP_000194.2:p.Val278=
NM_001363576.1:c.436G=	NP_001350505.1:p.Val146=
XM_011513461.2:c.625G=	XP_011511763.1:p.Val209=
XM_017008163.1:c.-129G=	XP_016863652.1:n.-129G=