Canonical Allele Identifier: CA355961983

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1905128
• ClinVar RCV Id: RCV002580637
• MyVariant Identifiers: chr4:g.995518C>G (hg19) ; chr4:g.1001730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001730C>G , CM000666.2:g.1001730C>G	GRCh38
NC_000004.11:g.995518C>G , CM000666.1:g.995518C>G	GRCh37
NC_000004.10:g.985518C>G	NCBI36
NG_008103.1:g.19734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.641C>G	ENSP00000247933.4:p.Pro214Arg
ENST00000514224.2:c.641C>G MANE Select	ENSP00000425081.2:p.Pro214Arg
ENST00000652070.1:n.697C>G
ENST00000247933.8:c.641C>G	ENSP00000247933.4:p.Pro214Arg
ENST00000502910.5:c.500C>G	ENSP00000422952.1:p.Pro167Arg
ENST00000509948.5:c.434C>G	ENSP00000424227.1:p.Pro145Arg
ENST00000514192.5:c.458C>G	ENSP00000423685.1:p.Pro153Arg
ENST00000514224.1:c.245C>G	ENSP00000425081.1:p.Pro82Arg
ENST00000514698.5:n.541C>G
NM_000203.4:c.641C>G	NP_000194.2:p.Pro214Arg
NR_110313.1:n.729C>G
XM_006713882.2:c.245C>G	XP_006713945.1:p.Pro82Arg
XM_011513459.1:c.500C>G	XP_011511761.1:p.Pro167Arg
XM_011513460.1:c.500C>G	XP_011511762.1:p.Pro167Arg
XM_011513461.1:c.434C>G	XP_011511763.1:p.Pro145Arg
XM_011513462.1:c.353C>G	XP_011511764.1:p.Pro118Arg
XM_011513463.1:c.353C>G	XP_011511765.1:p.Pro118Arg
XR_924947.1:n.710C>G
NM_000203.5:c.641C>G MANE Select	NP_000194.2:p.Pro214Arg
NM_001363576.1:c.245C>G	NP_001350505.1:p.Pro82Arg
XM_011513461.2:c.434C>G	XP_011511763.1:p.Pro145Arg
XM_017008163.1:c.-320C>G	XP_016863652.1:n.-320C>G