Canonical Allele Identifier: CA1433068505

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002020G= , CM000666.2:g.1002020G=	GRCh38
NC_000004.11:g.995808G= , CM000666.1:g.995808G=	GRCh37
NC_000004.10:g.985808G=	NCBI36
NG_008103.1:g.20024G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.831G=	ENSP00000247933.4:p.Lys277=
ENST00000514224.2:c.831G= MANE Select	ENSP00000425081.2:p.Lys277=
ENST00000652070.1:n.887G=
ENST00000247933.8:c.831G=	ENSP00000247933.4:p.Lys277=
ENST00000514192.5:c.648G=	ENSP00000423685.1:p.Lys216=
ENST00000514224.1:c.435G=	ENSP00000425081.1:p.Lys145=
ENST00000514698.5:n.831G=
NM_000203.4:c.831G=	NP_000194.2:p.Lys277=
NR_110313.1:n.919G=
XM_006713882.2:c.435G=	XP_006713945.1:p.Lys145=
XM_011513459.1:c.790G=	XP_011511761.1:p.Gly264=
XM_011513460.1:c.690G=	XP_011511762.1:p.Lys230=
XM_011513461.1:c.624G=	XP_011511763.1:p.Lys208=
XM_011513462.1:c.543G=	XP_011511764.1:p.Lys181=
XM_011513463.1:c.543G=	XP_011511765.1:p.Lys181=
XR_924947.1:n.900G=
NM_000203.5:c.831G= MANE Select	NP_000194.2:p.Lys277=
NM_001363576.1:c.435G=	NP_001350505.1:p.Lys145=
XM_011513461.2:c.624G=	XP_011511763.1:p.Lys208=
XM_017008163.1:c.-130G=	XP_016863652.1:n.-130G=