Canonical Allele Identifier: CA355961832

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001560C>T , CM000666.2:g.1001560C>T	GRCh38
NC_000004.11:g.995348C>T , CM000666.1:g.995348C>T	GRCh37
NC_000004.10:g.985348C>T	NCBI36
NG_008103.1:g.19564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.586C>T MANE Select	NP_000194.2:p.Gln196Ter
ENST00000514224.2:c.586C>T MANE Select	ENSP00000425081.2:p.Gln196Ter
NM_000203.4:c.586C>T	NP_000194.2:p.Gln196Ter
NM_001363576.1:c.190C>T	NP_001350505.1:p.Gln64Ter
NR_110313.1:n.674C>T
ENST00000247933.8:c.586C>T	ENSP00000247933.4:p.Gln196Ter
ENST00000247933.9:c.586C>T	ENSP00000247933.4:p.Gln196Ter
ENST00000502910.5:c.445C>T	ENSP00000422952.1:p.Gln149Ter
ENST00000504568.5:c.546C>T
ENST00000509948.5:c.379C>T	ENSP00000424227.1:p.Gln127Ter
ENST00000514192.5:c.403C>T	ENSP00000423685.1:p.Gln135Ter
ENST00000514224.1:c.190C>T	ENSP00000425081.1:p.Gln64Ter
ENST00000514698.5:n.486C>T
ENST00000652070.1:n.642C>T
XM_006713882.2:c.190C>T	XP_006713945.1:p.Gln64Ter
XM_011513459.1:c.445C>T	XP_011511761.1:p.Gln149Ter
XM_011513460.1:c.445C>T	XP_011511762.1:p.Gln149Ter
XM_011513461.1:c.379C>T	XP_011511763.1:p.Gln127Ter
XM_011513461.2:c.379C>T	XP_011511763.1:p.Gln127Ter
XM_011513462.1:c.298C>T	XP_011511764.1:p.Gln100Ter
XM_011513463.1:c.298C>T	XP_011511765.1:p.Gln100Ter
XM_017008163.1:c.-403C>T	XP_016863652.1:n.-403C>T
XR_924947.1:n.655C>T