Canonical Allele Identifier: CA355962445

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995845T>A (hg19) ; chr4:g.1002057T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002057T>A , CM000666.2:g.1002057T>A	GRCh38
NC_000004.11:g.995845T>A , CM000666.1:g.995845T>A	GRCh37
NC_000004.10:g.985845T>A	NCBI36
NG_008103.1:g.20061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.868T>A	ENSP00000247933.4:p.Phe290Ile
ENST00000514224.2:c.868T>A MANE Select	ENSP00000425081.2:p.Phe290Ile
ENST00000652070.1:n.924T>A
ENST00000247933.8:c.868T>A	ENSP00000247933.4:p.Phe290Ile
ENST00000514192.5:c.685T>A	ENSP00000423685.1:p.Phe229Ile
ENST00000514224.1:c.472T>A	ENSP00000425081.1:p.Phe158Ile
ENST00000514698.5:n.868T>A
NM_000203.4:c.868T>A	NP_000194.2:p.Phe290Ile
NR_110313.1:n.956T>A
XM_006713882.2:c.472T>A	XP_006713945.1:p.Phe158Ile
XM_011513459.1:c.827T>A	XP_011511761.1:p.Val276Asp
XM_011513460.1:c.727T>A	XP_011511762.1:p.Phe243Ile
XM_011513461.1:c.661T>A	XP_011511763.1:p.Phe221Ile
XM_011513462.1:c.580T>A	XP_011511764.1:p.Phe194Ile
XM_011513463.1:c.580T>A	XP_011511765.1:p.Phe194Ile
XR_924947.1:n.937T>A
NM_000203.5:c.868T>A MANE Select	NP_000194.2:p.Phe290Ile
NM_001363576.1:c.472T>A	NP_001350505.1:p.Phe158Ile
XM_011513461.2:c.661T>A	XP_011511763.1:p.Phe221Ile
XM_017008163.1:c.-93T>A	XP_016863652.1:n.-93T>A