Canonical Allele Identifier: CA355962052

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995555C>G (hg19) ; chr4:g.1001767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001767C>G , CM000666.2:g.1001767C>G	GRCh38
NC_000004.11:g.995555C>G , CM000666.1:g.995555C>G	GRCh37
NC_000004.10:g.985555C>G	NCBI36
NG_008103.1:g.19771C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.678C>G	ENSP00000247933.4:p.His226Gln
ENST00000514224.2:c.678C>G MANE Select	ENSP00000425081.2:p.His226Gln
ENST00000652070.1:n.734C>G
ENST00000247933.8:c.678C>G	ENSP00000247933.4:p.His226Gln
ENST00000502910.5:c.537C>G	ENSP00000422952.1:p.His179Gln
ENST00000509948.5:c.471C>G	ENSP00000424227.1:p.His157Gln
ENST00000514192.5:c.495C>G	ENSP00000423685.1:p.His165Gln
ENST00000514224.1:c.282C>G	ENSP00000425081.1:p.His94Gln
ENST00000514698.5:n.578C>G
NM_000203.4:c.678C>G	NP_000194.2:p.His226Gln
NR_110313.1:n.766C>G
XM_006713882.2:c.282C>G	XP_006713945.1:p.His94Gln
XM_011513459.1:c.537C>G	XP_011511761.1:p.His179Gln
XM_011513460.1:c.537C>G	XP_011511762.1:p.His179Gln
XM_011513461.1:c.471C>G	XP_011511763.1:p.His157Gln
XM_011513462.1:c.390C>G	XP_011511764.1:p.His130Gln
XM_011513463.1:c.390C>G	XP_011511765.1:p.His130Gln
XR_924947.1:n.747C>G
NM_000203.5:c.678C>G MANE Select	NP_000194.2:p.His226Gln
NM_001363576.1:c.282C>G	NP_001350505.1:p.His94Gln
XM_011513461.2:c.471C>G	XP_011511763.1:p.His157Gln
XM_017008163.1:c.-283C>G	XP_016863652.1:n.-283C>G