Canonical Allele Identifier: CA355961717

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001510C>A , CM000666.2:g.1001510C>A	GRCh38
NC_000004.11:g.995298C>A , CM000666.1:g.995298C>A	GRCh37
NC_000004.10:g.985298C>A	NCBI36
NG_008103.1:g.19514C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.536C>A MANE Select	NP_000194.2:p.Thr179Lys
ENST00000514224.2:c.536C>A MANE Select	ENSP00000425081.2:p.Thr179Lys
NM_000203.4:c.536C>A	NP_000194.2:p.Thr179Lys
NM_001363576.1:c.140C>A	NP_001350505.1:p.Thr47Lys
NR_110313.1:n.624C>A
ENST00000247933.8:c.536C>A	ENSP00000247933.4:p.Thr179Lys
ENST00000247933.9:c.536C>A	ENSP00000247933.4:p.Thr179Lys
ENST00000502910.5:c.395C>A	ENSP00000422952.1:p.Thr132Lys
ENST00000504568.5:c.496C>A
ENST00000509948.5:c.329C>A	ENSP00000424227.1:p.Thr110Lys
ENST00000514192.5:c.353C>A	ENSP00000423685.1:p.Thr118Lys
ENST00000514224.1:c.140C>A	ENSP00000425081.1:p.Thr47Lys
ENST00000514698.5:n.436C>A
ENST00000652070.1:n.592C>A
XM_006713882.2:c.140C>A	XP_006713945.1:p.Thr47Lys
XM_011513459.1:c.395C>A	XP_011511761.1:p.Thr132Lys
XM_011513460.1:c.395C>A	XP_011511762.1:p.Thr132Lys
XM_011513461.1:c.329C>A	XP_011511763.1:p.Thr110Lys
XM_011513461.2:c.329C>A	XP_011511763.1:p.Thr110Lys
XM_011513462.1:c.248C>A	XP_011511764.1:p.Thr83Lys
XM_011513463.1:c.248C>A	XP_011511765.1:p.Thr83Lys
XM_017008163.1:c.-453C>A	XP_016863652.1:n.-453C>A
XR_924947.1:n.605C>A