Canonical Allele Identifier: CA256117

Gene: IDUA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002392A>C , CM000666.2:g.1002392A>C	GRCh38
NC_000004.11:g.996180A>C , CM000666.1:g.996180A>C	GRCh37
NC_000004.10:g.986180A>C	NCBI36
NG_008103.1:g.20396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1096A>C	ENSP00000247933.4:p.Thr366Pro
ENST00000514224.2:c.1096A>C MANE Select	ENSP00000425081.2:p.Thr366Pro
ENST00000652070.1:n.1152A>C
ENST00000247933.8:c.1096A>C	ENSP00000247933.4:p.Thr366Pro
ENST00000514224.1:c.700A>C	ENSP00000425081.1:p.Thr234Pro
ENST00000514698.5:n.1203A>C
NM_000203.4:c.1096A>C	NP_000194.2:p.Thr366Pro
NR_110313.1:n.1184A>C
XM_006713882.2:c.700A>C	XP_006713945.1:p.Thr234Pro
XM_011513459.1:c.1162A>C	XP_011511761.1:p.Thr388Pro
XM_011513460.1:c.955A>C	XP_011511762.1:p.Thr319Pro
XM_011513461.1:c.889A>C	XP_011511763.1:p.Thr297Pro
XM_011513462.1:c.808A>C	XP_011511764.1:p.Thr270Pro
XM_011513463.1:c.808A>C	XP_011511765.1:p.Thr270Pro
XR_924947.1:n.1165A>C
NM_000203.5:c.1096A>C MANE Select	NP_000194.2:p.Thr366Pro
NM_001363576.1:c.700A>C	NP_001350505.1:p.Thr234Pro
XM_011513461.2:c.889A>C	XP_011511763.1:p.Thr297Pro
XM_017008163.1:c.136A>C	XP_016863652.1:p.Thr46Pro