Canonical Allele Identifier: CA355966131

Gene: IDUA

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004393A>C , CM000666.2:g.1004393A>C	GRCh38
NC_000004.11:g.998181A>C , CM000666.1:g.998181A>C	GRCh37
NC_000004.10:g.988181A>C	NCBI36
NG_008103.1:g.22397A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1962A>C	ENSP00000247933.4:p.Ter654Cys
ENST00000514224.2:c.1962A>C MANE Select	ENSP00000425081.2:p.Ter654Cys
ENST00000652070.1:n.2018A>C
ENST00000247933.8:c.1962A>C	ENSP00000247933.4:p.Ter654Cys
ENST00000514224.1:c.1566A>C	ENSP00000425081.1:p.Ter522Cys
ENST00000514698.5:n.2073A>C
NM_000203.4:c.1962A>C	NP_000194.2:p.Ter654Cys
NR_110313.1:n.2054A>C
XM_006713882.2:c.1566A>C	XP_006713945.1:p.Ter522Cys
XM_011513459.1:c.2028A>C	XP_011511761.1:p.Ter676Cys
XM_011513460.1:c.1821A>C	XP_011511762.1:p.Ter607Cys
XM_011513461.1:c.1755A>C	XP_011511763.1:p.Ter585Cys
XM_011513462.1:c.1674A>C	XP_011511764.1:p.Ter558Cys
XM_011513463.1:c.1674A>C	XP_011511765.1:p.Ter558Cys
XR_924947.1:n.2222A>C
NM_000203.5:c.1962A>C MANE Select	NP_000194.2:p.Ter654Cys
NM_001363576.1:c.1566A>C	NP_001350505.1:p.Ter522Cys
XM_011513461.2:c.1755A>C	XP_011511763.1:p.Ter585Cys
XM_017008163.1:c.1002A>C	XP_016863652.1:p.Ter334Cys