Canonical Allele Identifier: CA355962424

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995834T>G (hg19) ; chr4:g.1002046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002046T>G , CM000666.2:g.1002046T>G	GRCh38
NC_000004.11:g.995834T>G , CM000666.1:g.995834T>G	GRCh37
NC_000004.10:g.985834T>G	NCBI36
NG_008103.1:g.20050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.857T>G	ENSP00000247933.4:p.Leu286Arg
ENST00000514224.2:c.857T>G MANE Select	ENSP00000425081.2:p.Leu286Arg
ENST00000652070.1:n.913T>G
ENST00000247933.8:c.857T>G	ENSP00000247933.4:p.Leu286Arg
ENST00000514192.5:c.674T>G	ENSP00000423685.1:p.Leu225Arg
ENST00000514224.1:c.461T>G	ENSP00000425081.1:p.Leu154Arg
ENST00000514698.5:n.857T>G
NM_000203.4:c.857T>G	NP_000194.2:p.Leu286Arg
NR_110313.1:n.945T>G
XM_006713882.2:c.461T>G	XP_006713945.1:p.Leu154Arg
XM_011513459.1:c.816T>G	XP_011511761.1:p.Ala272=
XM_011513460.1:c.716T>G	XP_011511762.1:p.Leu239Arg
XM_011513461.1:c.650T>G	XP_011511763.1:p.Leu217Arg
XM_011513462.1:c.569T>G	XP_011511764.1:p.Leu190Arg
XM_011513463.1:c.569T>G	XP_011511765.1:p.Leu190Arg
XR_924947.1:n.926T>G
NM_000203.5:c.857T>G MANE Select	NP_000194.2:p.Leu286Arg
NM_001363576.1:c.461T>G	NP_001350505.1:p.Leu154Arg
XM_011513461.2:c.650T>G	XP_011511763.1:p.Leu217Arg
XM_017008163.1:c.-104T>G	XP_016863652.1:n.-104T>G