Canonical Allele Identifier: CA2802048

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001752C>G , CM000666.2:g.1001752C>G	GRCh38
NC_000004.11:g.995540C>G , CM000666.1:g.995540C>G	GRCh37
NC_000004.10:g.985540C>G	NCBI36
NG_008103.1:g.19756C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.663C>G	ENSP00000247933.4:p.Pro221=
ENST00000514224.2:c.663C>G MANE Select	ENSP00000425081.2:p.Pro221=
ENST00000652070.1:n.719C>G
ENST00000247933.8:c.663C>G	ENSP00000247933.4:p.Pro221=
ENST00000502910.5:c.522C>G	ENSP00000422952.1:p.Pro174=
ENST00000509948.5:c.456C>G	ENSP00000424227.1:p.Pro152=
ENST00000514192.5:c.480C>G	ENSP00000423685.1:p.Pro160=
ENST00000514224.1:c.267C>G	ENSP00000425081.1:p.Pro89=
ENST00000514698.5:n.563C>G
NM_000203.4:c.663C>G	NP_000194.2:p.Pro221=
NR_110313.1:n.751C>G
XM_006713882.2:c.267C>G	XP_006713945.1:p.Pro89=
XM_011513459.1:c.522C>G	XP_011511761.1:p.Pro174=
XM_011513460.1:c.522C>G	XP_011511762.1:p.Pro174=
XM_011513461.1:c.456C>G	XP_011511763.1:p.Pro152=
XM_011513462.1:c.375C>G	XP_011511764.1:p.Pro125=
XM_011513463.1:c.375C>G	XP_011511765.1:p.Pro125=
XR_924947.1:n.732C>G
NM_000203.5:c.663C>G MANE Select	NP_000194.2:p.Pro221=
NM_001363576.1:c.267C>G	NP_001350505.1:p.Pro89=
XM_011513461.2:c.456C>G	XP_011511763.1:p.Pro152=
XM_017008163.1:c.-298C>G	XP_016863652.1:n.-298C>G