Canonical Allele Identifier: CA438057397

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995669G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001881G>A , CM000666.2:g.1001881G>A	GRCh38
NC_000004.11:g.995669G>A , CM000666.1:g.995669G>A	GRCh37
NC_000004.10:g.985669G>A	NCBI36
NG_008103.1:g.19885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792G>A	ENSP00000247933.4:p.Lys264=
ENST00000514224.2:c.792G>A MANE Select	ENSP00000425081.2:p.Lys264=
ENST00000652070.1:n.848G>A
ENST00000247933.8:c.792G>A	ENSP00000247933.4:p.Lys264=
ENST00000502910.5:c.651G>A	ENSP00000422952.1:p.Lys217=
ENST00000514192.5:c.609G>A	ENSP00000423685.1:p.Lys203=
ENST00000514224.1:c.396G>A	ENSP00000425081.1:p.Lys132=
ENST00000514698.5:n.692G>A
NM_000203.4:c.792G>A	NP_000194.2:p.Lys264=
NR_110313.1:n.880G>A
XM_006713882.2:c.396G>A	XP_006713945.1:p.Lys132=
XM_011513459.1:c.651G>A	XP_011511761.1:p.Lys217=
XM_011513460.1:c.651G>A	XP_011511762.1:p.Lys217=
XM_011513461.1:c.585G>A	XP_011511763.1:p.Lys195=
XM_011513462.1:c.504G>A	XP_011511764.1:p.Lys168=
XM_011513463.1:c.504G>A	XP_011511765.1:p.Lys168=
XR_924947.1:n.861G>A
NM_000203.5:c.792G>A MANE Select	NP_000194.2:p.Lys264=
NM_001363576.1:c.396G>A	NP_001350505.1:p.Lys132=
XM_011513461.2:c.585G>A	XP_011511763.1:p.Lys195=
XM_017008163.1:c.-169G>A	XP_016863652.1:n.-169G>A