Canonical Allele Identifier: CA2801870

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000625C>T , CM000666.2:g.1000625C>T	GRCh38
NC_000004.11:g.994413C>T , CM000666.1:g.994413C>T	GRCh37
NC_000004.10:g.984413C>T	NCBI36
NG_008103.1:g.18629C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.313C>T MANE Select	NP_000194.2:p.Arg105Trp
ENST00000514224.2:c.313C>T MANE Select	ENSP00000425081.2:p.Arg105Trp
NM_000203.4:c.313C>T	NP_000194.2:p.Arg105Trp
NM_001363576.1:c.-84C>T	NP_001350505.1:n.-84C>T
NR_110313.1:n.401C>T
ENST00000247933.8:c.313C>T	ENSP00000247933.4:p.Arg105Trp
ENST00000247933.9:c.313C>T	ENSP00000247933.4:p.Arg105Trp
ENST00000502910.5:c.172C>T	ENSP00000422952.1:p.Arg58Trp
ENST00000504568.5:c.273C>T
ENST00000506561.5:n.322C>T
ENST00000508168.5:n.191C>T
ENST00000509948.5:c.106C>T	ENSP00000424227.1:p.Arg36Trp
ENST00000514192.5:c.130C>T	ENSP00000423685.1:p.Arg44Trp
ENST00000514224.1:c.-84C>T	ENSP00000425081.1:n.-84C>T
ENST00000514698.5:n.213C>T
ENST00000652070.1:n.369C>T
XM_006713882.2:c.-84C>T	XP_006713945.1:n.-84C>T
XM_011513459.1:c.172C>T	XP_011511761.1:p.Arg58Trp
XM_011513460.1:c.172C>T	XP_011511762.1:p.Arg58Trp
XM_011513461.1:c.106C>T	XP_011511763.1:p.Arg36Trp
XM_011513461.2:c.106C>T	XP_011511763.1:p.Arg36Trp
XM_011513462.1:c.-160C>T	XP_011511764.1:n.-160C>T
XM_011513463.1:c.-160C>T	XP_011511765.1:n.-160C>T
XM_017008163.1:c.-1154C>T	XP_016863652.1:n.-1154C>T
XR_924947.1:n.382C>T