Canonical Allele Identifier: CA645538604

Gene: IDUA

Linked Data

• COSMIC: COSM5183842

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001461T>G , CM000666.2:g.1001461T>G	GRCh38
NC_000004.11:g.995249T>G , CM000666.1:g.995249T>G	GRCh37
NC_000004.10:g.985249T>G	NCBI36
NG_008103.1:g.19465T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-7T>G	ENSP00000247933.4:n.494-7T>G
ENST00000514224.2:c.494-7T>G MANE Select	ENSP00000425081.2:n.494-7T>G
ENST00000652070.1:n.550-7T>G
ENST00000247933.8:c.494-7T>G	ENSP00000247933.4:n.494-7T>G
ENST00000502910.5:c.353-7T>G	ENSP00000422952.1:n.353-7T>G
ENST00000504568.5:c.454-7T>G
ENST00000509948.5:c.287-7T>G	ENSP00000424227.1:n.287-7T>G
ENST00000514192.5:c.311-7T>G	ENSP00000423685.1:n.311-7T>G
ENST00000514224.1:c.98-7T>G	ENSP00000425081.1:n.98-7T>G
ENST00000514698.5:n.394-7T>G
NM_000203.4:c.494-7T>G	NP_000194.2:n.494-7T>G
NR_110313.1:n.582-7T>G
XM_006713882.2:c.98-7T>G	XP_006713945.1:n.98-7T>G
XM_011513459.1:c.353-7T>G	XP_011511761.1:n.353-7T>G
XM_011513460.1:c.353-7T>G	XP_011511762.1:n.353-7T>G
XM_011513461.1:c.287-7T>G	XP_011511763.1:n.287-7T>G
XM_011513462.1:c.206-7T>G	XP_011511764.1:n.206-7T>G
XM_011513463.1:c.206-7T>G	XP_011511765.1:n.206-7T>G
XR_924947.1:n.563-7T>G
NM_000203.5:c.494-7T>G MANE Select	NP_000194.2:n.494-7T>G
NM_001363576.1:c.98-7T>G	NP_001350505.1:n.98-7T>G
XM_011513461.2:c.287-7T>G	XP_011511763.1:n.287-7T>G
XM_017008163.1:c.-502T>G	XP_016863652.1:n.-502T>G