Canonical Allele Identifier: CA355962124

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001807C>T , CM000666.2:g.1001807C>T	GRCh38
NC_000004.11:g.995595C>T , CM000666.1:g.995595C>T	GRCh37
NC_000004.10:g.985595C>T	NCBI36
NG_008103.1:g.19811C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.718C>T MANE Select	NP_000194.2:p.His240Tyr
ENST00000514224.2:c.718C>T MANE Select	ENSP00000425081.2:p.His240Tyr
NM_000203.4:c.718C>T	NP_000194.2:p.His240Tyr
NM_001363576.1:c.322C>T	NP_001350505.1:p.His108Tyr
NR_110313.1:n.806C>T
ENST00000247933.8:c.718C>T	ENSP00000247933.4:p.His240Tyr
ENST00000247933.9:c.718C>T	ENSP00000247933.4:p.His240Tyr
ENST00000502910.5:c.577C>T	ENSP00000422952.1:p.His193Tyr
ENST00000509948.5:c.511C>T	ENSP00000424227.1:p.His171Tyr
ENST00000514192.5:c.535C>T	ENSP00000423685.1:p.His179Tyr
ENST00000514224.1:c.322C>T	ENSP00000425081.1:p.His108Tyr
ENST00000514698.5:n.618C>T
ENST00000652070.1:n.774C>T
XM_006713882.2:c.322C>T	XP_006713945.1:p.His108Tyr
XM_011513459.1:c.577C>T	XP_011511761.1:p.His193Tyr
XM_011513460.1:c.577C>T	XP_011511762.1:p.His193Tyr
XM_011513461.1:c.511C>T	XP_011511763.1:p.His171Tyr
XM_011513461.2:c.511C>T	XP_011511763.1:p.His171Tyr
XM_011513462.1:c.430C>T	XP_011511764.1:p.His144Tyr
XM_011513463.1:c.430C>T	XP_011511765.1:p.His144Tyr
XM_017008163.1:c.-243C>T	XP_016863652.1:n.-243C>T
XR_924947.1:n.787C>T