Canonical Allele Identifier: CA1433068095

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001848C= , CM000666.2:g.1001848C=	GRCh38
NC_000004.11:g.995636C= , CM000666.1:g.995636C=	GRCh37
NC_000004.10:g.985636C=	NCBI36
NG_008103.1:g.19852C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.759C=	ENSP00000247933.4:p.Gly253=
ENST00000514224.2:c.759C= MANE Select	ENSP00000425081.2:p.Gly253=
ENST00000652070.1:n.815C=
ENST00000247933.8:c.759C=	ENSP00000247933.4:p.Gly253=
ENST00000502910.5:c.618C=	ENSP00000422952.1:p.Gly206=
ENST00000514192.5:c.576C=	ENSP00000423685.1:p.Gly192=
ENST00000514224.1:c.363C=	ENSP00000425081.1:p.Gly121=
ENST00000514698.5:n.659C=
NM_000203.4:c.759C=	NP_000194.2:p.Gly253=
NR_110313.1:n.847C=
XM_006713882.2:c.363C=	XP_006713945.1:p.Gly121=
XM_011513459.1:c.618C=	XP_011511761.1:p.Gly206=
XM_011513460.1:c.618C=	XP_011511762.1:p.Gly206=
XM_011513461.1:c.552C=	XP_011511763.1:p.Gly184=
XM_011513462.1:c.471C=	XP_011511764.1:p.Gly157=
XM_011513463.1:c.471C=	XP_011511765.1:p.Gly157=
XR_924947.1:n.828C=
NM_000203.5:c.759C= MANE Select	NP_000194.2:p.Gly253=
NM_001363576.1:c.363C=	NP_001350505.1:p.Gly121=
XM_011513461.2:c.552C=	XP_011511763.1:p.Gly184=
XM_017008163.1:c.-202C=	XP_016863652.1:n.-202C=