Canonical Allele Identifier: CA355962115

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995589C>G (hg19) ; chr4:g.1001801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001801C>G , CM000666.2:g.1001801C>G	GRCh38
NC_000004.11:g.995589C>G , CM000666.1:g.995589C>G	GRCh37
NC_000004.10:g.985589C>G	NCBI36
NG_008103.1:g.19805C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.712C>G	ENSP00000247933.4:p.Leu238Val
ENST00000514224.2:c.712C>G MANE Select	ENSP00000425081.2:p.Leu238Val
ENST00000652070.1:n.768C>G
ENST00000247933.8:c.712C>G	ENSP00000247933.4:p.Leu238Val
ENST00000502910.5:c.571C>G	ENSP00000422952.1:p.Leu191Val
ENST00000509948.5:c.505C>G	ENSP00000424227.1:p.Leu169Val
ENST00000514192.5:c.529C>G	ENSP00000423685.1:p.Leu177Val
ENST00000514224.1:c.316C>G	ENSP00000425081.1:p.Leu106Val
ENST00000514698.5:n.612C>G
NM_000203.4:c.712C>G	NP_000194.2:p.Leu238Val
NR_110313.1:n.800C>G
XM_006713882.2:c.316C>G	XP_006713945.1:p.Leu106Val
XM_011513459.1:c.571C>G	XP_011511761.1:p.Leu191Val
XM_011513460.1:c.571C>G	XP_011511762.1:p.Leu191Val
XM_011513461.1:c.505C>G	XP_011511763.1:p.Leu169Val
XM_011513462.1:c.424C>G	XP_011511764.1:p.Leu142Val
XM_011513463.1:c.424C>G	XP_011511765.1:p.Leu142Val
XR_924947.1:n.781C>G
NM_000203.5:c.712C>G MANE Select	NP_000194.2:p.Leu238Val
NM_001363576.1:c.316C>G	NP_001350505.1:p.Leu106Val
XM_011513461.2:c.505C>G	XP_011511763.1:p.Leu169Val
XM_017008163.1:c.-249C>G	XP_016863652.1:n.-249C>G