Canonical Allele Identifier: CA355963455

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002459C>T , CM000666.2:g.1002459C>T	GRCh38
NC_000004.11:g.996247C>T , CM000666.1:g.996247C>T	GRCh37
NC_000004.10:g.986247C>T	NCBI36
NG_008103.1:g.20463C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1163C>T MANE Select	NP_000194.2:p.Thr388Met
ENST00000514224.2:c.1163C>T MANE Select	ENSP00000425081.2:p.Thr388Met
NM_000203.4:c.1163C>T	NP_000194.2:p.Thr388Met
NM_001363576.1:c.767C>T	NP_001350505.1:p.Thr256Met
NR_110313.1:n.1251C>T
ENST00000247933.8:c.1163C>T	ENSP00000247933.4:p.Thr388Met
ENST00000247933.9:c.1163C>T	ENSP00000247933.4:p.Thr388Met
ENST00000514224.1:c.767C>T	ENSP00000425081.1:p.Thr256Met
ENST00000514698.5:n.1270C>T
ENST00000652070.1:n.1219C>T
XM_006713882.2:c.767C>T	XP_006713945.1:p.Thr256Met
XM_011513459.1:c.1229C>T	XP_011511761.1:p.Thr410Met
XM_011513460.1:c.1022C>T	XP_011511762.1:p.Thr341Met
XM_011513461.1:c.956C>T	XP_011511763.1:p.Thr319Met
XM_011513461.2:c.956C>T	XP_011511763.1:p.Thr319Met
XM_011513462.1:c.875C>T	XP_011511764.1:p.Thr292Met
XM_011513463.1:c.875C>T	XP_011511765.1:p.Thr292Met
XM_017008163.1:c.203C>T	XP_016863652.1:p.Thr68Met
XR_924947.1:n.1232C>T