Canonical Allele Identifier: CA355962040

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995551T>A (hg19) ; chr4:g.1001763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001763T>A , CM000666.2:g.1001763T>A	GRCh38
NC_000004.11:g.995551T>A , CM000666.1:g.995551T>A	GRCh37
NC_000004.10:g.985551T>A	NCBI36
NG_008103.1:g.19767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.674T>A	ENSP00000247933.4:p.Phe225Tyr
ENST00000514224.2:c.674T>A MANE Select	ENSP00000425081.2:p.Phe225Tyr
ENST00000652070.1:n.730T>A
ENST00000247933.8:c.674T>A	ENSP00000247933.4:p.Phe225Tyr
ENST00000502910.5:c.533T>A	ENSP00000422952.1:p.Phe178Tyr
ENST00000509948.5:c.467T>A	ENSP00000424227.1:p.Phe156Tyr
ENST00000514192.5:c.491T>A	ENSP00000423685.1:p.Phe164Tyr
ENST00000514224.1:c.278T>A	ENSP00000425081.1:p.Phe93Tyr
ENST00000514698.5:n.574T>A
NM_000203.4:c.674T>A	NP_000194.2:p.Phe225Tyr
NR_110313.1:n.762T>A
XM_006713882.2:c.278T>A	XP_006713945.1:p.Phe93Tyr
XM_011513459.1:c.533T>A	XP_011511761.1:p.Phe178Tyr
XM_011513460.1:c.533T>A	XP_011511762.1:p.Phe178Tyr
XM_011513461.1:c.467T>A	XP_011511763.1:p.Phe156Tyr
XM_011513462.1:c.386T>A	XP_011511764.1:p.Phe129Tyr
XM_011513463.1:c.386T>A	XP_011511765.1:p.Phe129Tyr
XR_924947.1:n.743T>A
NM_000203.5:c.674T>A MANE Select	NP_000194.2:p.Phe225Tyr
NM_001363576.1:c.278T>A	NP_001350505.1:p.Phe93Tyr
XM_011513461.2:c.467T>A	XP_011511763.1:p.Phe156Tyr
XM_017008163.1:c.-287T>A	XP_016863652.1:n.-287T>A