Canonical Allele Identifier: CA355961627

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000990G>T , CM000666.2:g.1000990G>T	GRCh38
NC_000004.11:g.994778G>T , CM000666.1:g.994778G>T	GRCh37
NC_000004.10:g.984778G>T	NCBI36
NG_008103.1:g.18994G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.493+1G>T MANE Select	NP_000194.2:n.493+1G>T
ENST00000514224.2:c.493+1G>T MANE Select	ENSP00000425081.2:n.493+1G>T
NM_000203.4:c.493+1G>T	NP_000194.2:n.493+1G>T
NM_001363576.1:c.97+1G>T	NP_001350505.1:n.97+1G>T
NR_110313.1:n.581+1G>T
ENST00000247933.8:c.493+1G>T	ENSP00000247933.4:n.493+1G>T
ENST00000247933.9:c.493+1G>T	ENSP00000247933.4:n.493+1G>T
ENST00000502910.5:c.352+1G>T	ENSP00000422952.1:n.352+1G>T
ENST00000504568.5:c.453+1G>T
ENST00000506561.5:n.503G>T
ENST00000508168.5:n.372G>T
ENST00000509948.5:c.286+1G>T	ENSP00000424227.1:n.286+1G>T
ENST00000514192.5:c.310+1G>T	ENSP00000423685.1:n.310+1G>T
ENST00000514224.1:c.97+1G>T	ENSP00000425081.1:n.97+1G>T
ENST00000514698.5:n.393+1G>T
ENST00000652070.1:n.549+1G>T
XM_006713882.2:c.97+1G>T	XP_006713945.1:n.97+1G>T
XM_011513459.1:c.352+1G>T	XP_011511761.1:n.352+1G>T
XM_011513460.1:c.352+1G>T	XP_011511762.1:n.352+1G>T
XM_011513461.1:c.286+1G>T	XP_011511763.1:n.286+1G>T
XM_011513461.2:c.286+1G>T	XP_011511763.1:n.286+1G>T
XM_011513462.1:c.205+1G>T	XP_011511764.1:n.205+1G>T
XM_011513463.1:c.205+1G>T	XP_011511765.1:n.205+1G>T
XM_017008163.1:c.-973G>T	XP_016863652.1:n.-973G>T
XR_924947.1:n.562+1G>T