Canonical Allele Identifier: CA355962037

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995550T>A (hg19) ; chr4:g.1001762T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001762T>A , CM000666.2:g.1001762T>A	GRCh38
NC_000004.11:g.995550T>A , CM000666.1:g.995550T>A	GRCh37
NC_000004.10:g.985550T>A	NCBI36
NG_008103.1:g.19766T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.673T>A	ENSP00000247933.4:p.Phe225Ile
ENST00000514224.2:c.673T>A MANE Select	ENSP00000425081.2:p.Phe225Ile
ENST00000652070.1:n.729T>A
ENST00000247933.8:c.673T>A	ENSP00000247933.4:p.Phe225Ile
ENST00000502910.5:c.532T>A	ENSP00000422952.1:p.Phe178Ile
ENST00000509948.5:c.466T>A	ENSP00000424227.1:p.Phe156Ile
ENST00000514192.5:c.490T>A	ENSP00000423685.1:p.Phe164Ile
ENST00000514224.1:c.277T>A	ENSP00000425081.1:p.Phe93Ile
ENST00000514698.5:n.573T>A
NM_000203.4:c.673T>A	NP_000194.2:p.Phe225Ile
NR_110313.1:n.761T>A
XM_006713882.2:c.277T>A	XP_006713945.1:p.Phe93Ile
XM_011513459.1:c.532T>A	XP_011511761.1:p.Phe178Ile
XM_011513460.1:c.532T>A	XP_011511762.1:p.Phe178Ile
XM_011513461.1:c.466T>A	XP_011511763.1:p.Phe156Ile
XM_011513462.1:c.385T>A	XP_011511764.1:p.Phe129Ile
XM_011513463.1:c.385T>A	XP_011511765.1:p.Phe129Ile
XR_924947.1:n.742T>A
NM_000203.5:c.673T>A MANE Select	NP_000194.2:p.Phe225Ile
NM_001363576.1:c.277T>A	NP_001350505.1:p.Phe93Ile
XM_011513461.2:c.466T>A	XP_011511763.1:p.Phe156Ile
XM_017008163.1:c.-288T>A	XP_016863652.1:n.-288T>A