Canonical Allele Identifier: CA355962398

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995822A>G (hg19) ; chr4:g.1002034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002034A>G , CM000666.2:g.1002034A>G	GRCh38
NC_000004.11:g.995822A>G , CM000666.1:g.995822A>G	GRCh37
NC_000004.10:g.985822A>G	NCBI36
NG_008103.1:g.20038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.845A>G	ENSP00000247933.4:p.Gln282Arg
ENST00000514224.2:c.845A>G MANE Select	ENSP00000425081.2:p.Gln282Arg
ENST00000652070.1:n.901A>G
ENST00000247933.8:c.845A>G	ENSP00000247933.4:p.Gln282Arg
ENST00000514192.5:c.662A>G	ENSP00000423685.1:p.Gln221Arg
ENST00000514224.1:c.449A>G	ENSP00000425081.1:p.Gln150Arg
ENST00000514698.5:n.845A>G
NM_000203.4:c.845A>G	NP_000194.2:p.Gln282Arg
NR_110313.1:n.933A>G
XM_006713882.2:c.449A>G	XP_006713945.1:p.Gln150Arg
XM_011513459.1:c.804A>G	XP_011511761.1:p.Ala268=
XM_011513460.1:c.704A>G	XP_011511762.1:p.Gln235Arg
XM_011513461.1:c.638A>G	XP_011511763.1:p.Gln213Arg
XM_011513462.1:c.557A>G	XP_011511764.1:p.Gln186Arg
XM_011513463.1:c.557A>G	XP_011511765.1:p.Gln186Arg
XR_924947.1:n.914A>G
NM_000203.5:c.845A>G MANE Select	NP_000194.2:p.Gln282Arg
NM_001363576.1:c.449A>G	NP_001350505.1:p.Gln150Arg
XM_011513461.2:c.638A>G	XP_011511763.1:p.Gln213Arg
XM_017008163.1:c.-116A>G	XP_016863652.1:n.-116A>G