Canonical Allele Identifier: CA2697557062

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2699683
• ClinVar RCV Id: RCV003592498

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003639G>C , CM000666.2:g.1003639G>C	GRCh38
NC_000004.11:g.997427G>C , CM000666.1:g.997427G>C	GRCh37
NC_000004.10:g.987427G>C	NCBI36
NG_008103.1:g.21643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+14G>C	ENSP00000247933.4:n.1727+14G>C
ENST00000514224.2:c.1727+14G>C MANE Select	ENSP00000425081.2:n.1727+14G>C
ENST00000652070.1:n.1783+14G>C
ENST00000247933.8:c.1727+14G>C	ENSP00000247933.4:n.1727+14G>C
ENST00000514224.1:c.1331+14G>C	ENSP00000425081.1:n.1331+14G>C
ENST00000514417.1:n.133G>C
ENST00000514698.5:n.1838+10G>C
NM_000203.4:c.1727+14G>C	NP_000194.2:n.1727+14G>C
NR_110313.1:n.1819+10G>C
XM_006713882.2:c.1331+14G>C	XP_006713945.1:n.1331+14G>C
XM_011513459.1:c.1793+14G>C	XP_011511761.1:n.1793+14G>C
XM_011513460.1:c.1586+14G>C	XP_011511762.1:n.1586+14G>C
XM_011513461.1:c.1520+14G>C	XP_011511763.1:n.1520+14G>C
XM_011513462.1:c.1439+14G>C	XP_011511764.1:n.1439+14G>C
XM_011513463.1:c.1439+14G>C	XP_011511765.1:n.1439+14G>C
XR_924947.1:n.1987+10G>C
NM_000203.5:c.1727+14G>C MANE Select	NP_000194.2:n.1727+14G>C
NM_001363576.1:c.1331+14G>C	NP_001350505.1:n.1331+14G>C
XM_011513461.2:c.1520+14G>C	XP_011511763.1:n.1520+14G>C
XM_017008163.1:c.767+14G>C	XP_016863652.1:n.767+14G>C