Canonical Allele Identifier: CA2802487

Gene: IDUA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1962A>G	ENSP00000247933.4:p.Ter654Trp
ENST00000514224.2:c.1962A>G MANE Select	ENSP00000425081.2:p.Ter654Trp
ENST00000652070.1:n.2018A>G
ENST00000247933.8:c.1962A>G	ENSP00000247933.4:p.Ter654Trp
ENST00000514224.1:c.1566A>G	ENSP00000425081.1:p.Ter522Trp
ENST00000514698.5:n.2073A>G
NM_000203.4:c.1962A>G	NP_000194.2:p.Ter654Trp
NR_110313.1:n.2054A>G
XM_006713882.2:c.1566A>G	XP_006713945.1:p.Ter522Trp
XM_011513459.1:c.2028A>G	XP_011511761.1:p.Ter676Trp
XM_011513460.1:c.1821A>G	XP_011511762.1:p.Ter607Trp
XM_011513461.1:c.1755A>G	XP_011511763.1:p.Ter585Trp
XM_011513462.1:c.1674A>G	XP_011511764.1:p.Ter558Trp
XM_011513463.1:c.1674A>G	XP_011511765.1:p.Ter558Trp
XR_924947.1:n.2222A>G
NM_000203.5:c.1962A>G MANE Select	NP_000194.2:p.Ter654Trp
NM_001363576.1:c.1566A>G	NP_001350505.1:p.Ter522Trp
XM_011513461.2:c.1755A>G	XP_011511763.1:p.Ter585Trp
XM_017008163.1:c.1002A>G	XP_016863652.1:p.Ter334Trp