Canonical Allele Identifier: CA1433068706

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002117C= , CM000666.2:g.1002117C=	GRCh38
NC_000004.11:g.995905C= , CM000666.1:g.995905C=	GRCh37
NC_000004.10:g.985905C=	NCBI36
NG_008103.1:g.20121C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.928C= MANE Select	NP_000194.2:p.Gln310=
ENST00000514224.2:c.928C= MANE Select	ENSP00000425081.2:p.Gln310=
NM_000203.4:c.928C=	NP_000194.2:p.Gln310=
NM_001363576.1:c.532C=	NP_001350505.1:p.Gln178=
NR_110313.1:n.1016C=
ENST00000247933.8:c.928C=	ENSP00000247933.4:p.Gln310=
ENST00000247933.9:c.928C=	ENSP00000247933.4:p.Gln310=
ENST00000514224.1:c.532C=	ENSP00000425081.1:p.Gln178=
ENST00000514698.5:n.928C=
ENST00000652070.1:n.984C=
XM_006713882.2:c.532C=	XP_006713945.1:p.Gln178=
XM_011513459.1:c.887C=	XP_011511761.1:p.Thr296=
XM_011513460.1:c.787C=	XP_011511762.1:p.Gln263=
XM_011513461.1:c.721C=	XP_011511763.1:p.Gln241=
XM_011513461.2:c.721C=	XP_011511763.1:p.Gln241=
XM_011513462.1:c.640C=	XP_011511764.1:p.Gln214=
XM_011513463.1:c.640C=	XP_011511765.1:p.Gln214=
XM_017008163.1:c.-33C=	XP_016863652.1:n.-33C=
XR_924947.1:n.997C=