Canonical Allele Identifier: CA1433068103

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001851G= , CM000666.2:g.1001851G=	GRCh38
NC_000004.11:g.995639G= , CM000666.1:g.995639G=	GRCh37
NC_000004.10:g.985639G=	NCBI36
NG_008103.1:g.19855G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.762G=	ENSP00000247933.4:p.Val254=
ENST00000514224.2:c.762G= MANE Select	ENSP00000425081.2:p.Val254=
ENST00000652070.1:n.818G=
ENST00000247933.8:c.762G=	ENSP00000247933.4:p.Val254=
ENST00000502910.5:c.621G=	ENSP00000422952.1:p.Val207=
ENST00000514192.5:c.579G=	ENSP00000423685.1:p.Val193=
ENST00000514224.1:c.366G=	ENSP00000425081.1:p.Val122=
ENST00000514698.5:n.662G=
NM_000203.4:c.762G=	NP_000194.2:p.Val254=
NR_110313.1:n.850G=
XM_006713882.2:c.366G=	XP_006713945.1:p.Val122=
XM_011513459.1:c.621G=	XP_011511761.1:p.Val207=
XM_011513460.1:c.621G=	XP_011511762.1:p.Val207=
XM_011513461.1:c.555G=	XP_011511763.1:p.Val185=
XM_011513462.1:c.474G=	XP_011511764.1:p.Val158=
XM_011513463.1:c.474G=	XP_011511765.1:p.Val158=
XR_924947.1:n.831G=
NM_000203.5:c.762G= MANE Select	NP_000194.2:p.Val254=
NM_001363576.1:c.366G=	NP_001350505.1:p.Val122=
XM_011513461.2:c.555G=	XP_011511763.1:p.Val185=
XM_017008163.1:c.-199G=	XP_016863652.1:n.-199G=