Canonical Allele Identifier: CA355965302

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004010A>G , CM000666.2:g.1004010A>G	GRCh38
NC_000004.11:g.997798A>G , CM000666.1:g.997798A>G	GRCh37
NC_000004.10:g.987798A>G	NCBI36
NG_008103.1:g.22014A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1728-2A>G MANE Select	NP_000194.2:n.1728-2A>G
ENST00000514224.2:c.1728-2A>G MANE Select	ENSP00000425081.2:n.1728-2A>G
NM_000203.4:c.1728-2A>G	NP_000194.2:n.1728-2A>G
NM_001363576.1:c.1332-2A>G	NP_001350505.1:n.1332-2A>G
NR_110313.1:n.1820-2A>G
ENST00000247933.8:c.1728-2A>G	ENSP00000247933.4:n.1728-2A>G
ENST00000247933.9:c.1728-2A>G	ENSP00000247933.4:n.1728-2A>G
ENST00000514224.1:c.1332-2A>G	ENSP00000425081.1:n.1332-2A>G
ENST00000514698.5:n.1839-2A>G
ENST00000652070.1:n.1784-2A>G
XM_006713882.2:c.1332-2A>G	XP_006713945.1:n.1332-2A>G
XM_011513459.1:c.1794-2A>G	XP_011511761.1:n.1794-2A>G
XM_011513460.1:c.1587-2A>G	XP_011511762.1:n.1587-2A>G
XM_011513461.1:c.1521-2A>G	XP_011511763.1:n.1521-2A>G
XM_011513461.2:c.1521-2A>G	XP_011511763.1:n.1521-2A>G
XM_011513462.1:c.1440-2A>G	XP_011511764.1:n.1440-2A>G
XM_011513463.1:c.1440-2A>G	XP_011511765.1:n.1440-2A>G
XM_017008163.1:c.768-2A>G	XP_016863652.1:n.768-2A>G
XR_924947.1:n.1988-2A>G