Canonical Allele Identifier: CA1433069359

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002387C= , CM000666.2:g.1002387C=	GRCh38
NC_000004.11:g.996175C= , CM000666.1:g.996175C=	GRCh37
NC_000004.10:g.986175C=	NCBI36
NG_008103.1:g.20391C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1091C=	ENSP00000247933.4:p.Thr364=
ENST00000514224.2:c.1091C= MANE Select	ENSP00000425081.2:p.Thr364=
ENST00000652070.1:n.1147C=
ENST00000247933.8:c.1091C=	ENSP00000247933.4:p.Thr364=
ENST00000514224.1:c.695C=	ENSP00000425081.1:p.Thr232=
ENST00000514698.5:n.1198C=
NM_000203.4:c.1091C=	NP_000194.2:p.Thr364=
NR_110313.1:n.1179C=
XM_006713882.2:c.695C=	XP_006713945.1:p.Thr232=
XM_011513459.1:c.1157C=	XP_011511761.1:p.Thr386=
XM_011513460.1:c.950C=	XP_011511762.1:p.Thr317=
XM_011513461.1:c.884C=	XP_011511763.1:p.Thr295=
XM_011513462.1:c.803C=	XP_011511764.1:p.Thr268=
XM_011513463.1:c.803C=	XP_011511765.1:p.Thr268=
XR_924947.1:n.1160C=
NM_000203.5:c.1091C= MANE Select	NP_000194.2:p.Thr364=
NM_001363576.1:c.695C=	NP_001350505.1:p.Thr232=
XM_011513461.2:c.884C=	XP_011511763.1:p.Thr295=
XM_017008163.1:c.131C=	XP_016863652.1:p.Thr44=