Canonical Allele Identifier: CA2739858905

Gene: IDUA

Linked Data

• ClinVar Variation Id: 3004092
• ClinVar RCV Id: RCV003865731

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002168C>T , CM000666.2:g.1002168C>T	GRCh38
NC_000004.11:g.995956C>T , CM000666.1:g.995956C>T	GRCh37
NC_000004.10:g.985956C>T	NCBI36
NG_008103.1:g.20172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+7C>T	ENSP00000247933.4:n.972+7C>T
ENST00000514224.2:c.972+7C>T MANE Select	ENSP00000425081.2:n.972+7C>T
ENST00000652070.1:n.1028+7C>T
ENST00000247933.8:c.972+7C>T	ENSP00000247933.4:n.972+7C>T
ENST00000514224.1:c.576+7C>T	ENSP00000425081.1:n.576+7C>T
ENST00000514698.5:n.979C>T
NM_000203.4:c.972+7C>T	NP_000194.2:n.972+7C>T
NR_110313.1:n.1060+7C>T
XM_006713882.2:c.576+7C>T	XP_006713945.1:n.576+7C>T
XM_011513459.1:c.938C>T	XP_011511761.1:p.Pro313Leu
XM_011513460.1:c.831+7C>T	XP_011511762.1:n.831+7C>T
XM_011513461.1:c.765+7C>T	XP_011511763.1:n.765+7C>T
XM_011513462.1:c.684+7C>T	XP_011511764.1:n.684+7C>T
XM_011513463.1:c.684+7C>T	XP_011511765.1:n.684+7C>T
XR_924947.1:n.1041+7C>T
NM_000203.5:c.972+7C>T MANE Select	NP_000194.2:n.972+7C>T
NM_001363576.1:c.576+7C>T	NP_001350505.1:n.576+7C>T
XM_011513461.2:c.765+7C>T	XP_011511763.1:n.765+7C>T
XM_017008163.1:c.12+7C>T	XP_016863652.1:n.12+7C>T