Canonical Allele Identifier: CA355961912

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001696G>T , CM000666.2:g.1001696G>T	GRCh38
NC_000004.11:g.995484G>T , CM000666.1:g.995484G>T	GRCh37
NC_000004.10:g.985484G>T	NCBI36
NG_008103.1:g.19700G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.607G>T MANE Select	NP_000194.2:p.Asp203Tyr
ENST00000514224.2:c.607G>T MANE Select	ENSP00000425081.2:p.Asp203Tyr
NM_000203.4:c.607G>T	NP_000194.2:p.Asp203Tyr
NM_001363576.1:c.211G>T	NP_001350505.1:p.Asp71Tyr
NR_110313.1:n.695G>T
ENST00000247933.8:c.607G>T	ENSP00000247933.4:p.Asp203Tyr
ENST00000247933.9:c.607G>T	ENSP00000247933.4:p.Asp203Tyr
ENST00000502910.5:c.466G>T	ENSP00000422952.1:p.Asp156Tyr
ENST00000504568.5:c.567G>T
ENST00000509948.5:c.400G>T	ENSP00000424227.1:p.Asp134Tyr
ENST00000514192.5:c.424G>T	ENSP00000423685.1:p.Asp142Tyr
ENST00000514224.1:c.211G>T	ENSP00000425081.1:p.Asp71Tyr
ENST00000514698.5:n.507G>T
ENST00000652070.1:n.663G>T
XM_006713882.2:c.211G>T	XP_006713945.1:p.Asp71Tyr
XM_011513459.1:c.466G>T	XP_011511761.1:p.Asp156Tyr
XM_011513460.1:c.466G>T	XP_011511762.1:p.Asp156Tyr
XM_011513461.1:c.400G>T	XP_011511763.1:p.Asp134Tyr
XM_011513461.2:c.400G>T	XP_011511763.1:p.Asp134Tyr
XM_011513462.1:c.319G>T	XP_011511764.1:p.Asp107Tyr
XM_011513463.1:c.319G>T	XP_011511765.1:p.Asp107Tyr
XM_017008163.1:c.-354G>T	XP_016863652.1:n.-354G>T
XR_924947.1:n.676G>T