Canonical Allele Identifier: CA355963230

Gene: IDUA

Linked Data

• dbSNP Id: rs2153022366
• MyVariant Identifiers: chr4:g.996151A>G (hg19) ; chr4:g.1002363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002363A>G , CM000666.2:g.1002363A>G	GRCh38
NC_000004.11:g.996151A>G , CM000666.1:g.996151A>G	GRCh37
NC_000004.10:g.986151A>G	NCBI36
NG_008103.1:g.20367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1067A>G	ENSP00000247933.4:p.His356Arg
ENST00000514224.2:c.1067A>G MANE Select	ENSP00000425081.2:p.His356Arg
ENST00000652070.1:n.1123A>G
ENST00000247933.8:c.1067A>G	ENSP00000247933.4:p.His356Arg
ENST00000514224.1:c.671A>G	ENSP00000425081.1:p.His224Arg
ENST00000514698.5:n.1174A>G
NM_000203.4:c.1067A>G	NP_000194.2:p.His356Arg
NR_110313.1:n.1155A>G
XM_006713882.2:c.671A>G	XP_006713945.1:p.His224Arg
XM_011513459.1:c.1133A>G	XP_011511761.1:p.His378Arg
XM_011513460.1:c.926A>G	XP_011511762.1:p.His309Arg
XM_011513461.1:c.860A>G	XP_011511763.1:p.His287Arg
XM_011513462.1:c.779A>G	XP_011511764.1:p.His260Arg
XM_011513463.1:c.779A>G	XP_011511765.1:p.His260Arg
XR_924947.1:n.1136A>G
NM_000203.5:c.1067A>G MANE Select	NP_000194.2:p.His356Arg
NM_001363576.1:c.671A>G	NP_001350505.1:p.His224Arg
XM_011513461.2:c.860A>G	XP_011511763.1:p.His287Arg
XM_017008163.1:c.107A>G	XP_016863652.1:p.His36Arg