Canonical Allele Identifier: CA1433067781

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001728C= , CM000666.2:g.1001728C=	GRCh38
NC_000004.11:g.995516C= , CM000666.1:g.995516C=	GRCh37
NC_000004.10:g.985516C=	NCBI36
NG_008103.1:g.19732C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.639C=	ENSP00000247933.4:p.Ser213=
ENST00000514224.2:c.639C= MANE Select	ENSP00000425081.2:p.Ser213=
ENST00000652070.1:n.695C=
ENST00000247933.8:c.639C=	ENSP00000247933.4:p.Ser213=
ENST00000502910.5:c.498C=	ENSP00000422952.1:p.Ser166=
ENST00000509948.5:c.432C=	ENSP00000424227.1:p.Ser144=
ENST00000514192.5:c.456C=	ENSP00000423685.1:p.Ser152=
ENST00000514224.1:c.243C=	ENSP00000425081.1:p.Ser81=
ENST00000514698.5:n.539C=
NM_000203.4:c.639C=	NP_000194.2:p.Ser213=
NR_110313.1:n.727C=
XM_006713882.2:c.243C=	XP_006713945.1:p.Ser81=
XM_011513459.1:c.498C=	XP_011511761.1:p.Ser166=
XM_011513460.1:c.498C=	XP_011511762.1:p.Ser166=
XM_011513461.1:c.432C=	XP_011511763.1:p.Ser144=
XM_011513462.1:c.351C=	XP_011511764.1:p.Ser117=
XM_011513463.1:c.351C=	XP_011511765.1:p.Ser117=
XR_924947.1:n.708C=
NM_000203.5:c.639C= MANE Select	NP_000194.2:p.Ser213=
NM_001363576.1:c.243C=	NP_001350505.1:p.Ser81=
XM_011513461.2:c.432C=	XP_011511763.1:p.Ser144=
XM_017008163.1:c.-322C=	XP_016863652.1:n.-322C=