Canonical Allele Identifier: CA275387

Gene: IDUA

Linked Data

• ClinVar Variation Id: 198406
• ClinVar RCV Id: RCV000179734 ; RCV003591695
• dbSNP Id: rs794727840
• MyVariant Identifiers: chr4:g.995950G>A (hg19) ; chr4:g.1002162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002162G>A , CM000666.2:g.1002162G>A	GRCh38
NC_000004.11:g.995950G>A , CM000666.1:g.995950G>A	GRCh37
NC_000004.10:g.985950G>A	NCBI36
NG_008103.1:g.20166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+1G>A	ENSP00000247933.4:n.972+1G>A
ENST00000514224.2:c.972+1G>A MANE Select	ENSP00000425081.2:n.972+1G>A
ENST00000652070.1:n.1028+1G>A
ENST00000247933.8:c.972+1G>A	ENSP00000247933.4:n.972+1G>A
ENST00000514224.1:c.576+1G>A	ENSP00000425081.1:n.576+1G>A
ENST00000514698.5:n.973G>A
NM_000203.4:c.972+1G>A	NP_000194.2:n.972+1G>A
NR_110313.1:n.1060+1G>A
XM_006713882.2:c.576+1G>A	XP_006713945.1:n.576+1G>A
XM_011513459.1:c.932G>A	XP_011511761.1:p.Gly311Asp
XM_011513460.1:c.831+1G>A	XP_011511762.1:n.831+1G>A
XM_011513461.1:c.765+1G>A	XP_011511763.1:n.765+1G>A
XM_011513462.1:c.684+1G>A	XP_011511764.1:n.684+1G>A
XM_011513463.1:c.684+1G>A	XP_011511765.1:n.684+1G>A
XR_924947.1:n.1041+1G>A
NM_000203.5:c.972+1G>A MANE Select	NP_000194.2:n.972+1G>A
NM_001363576.1:c.576+1G>A	NP_001350505.1:n.576+1G>A
XM_011513461.2:c.765+1G>A	XP_011511763.1:n.765+1G>A
XM_017008163.1:c.12+1G>A	XP_016863652.1:n.12+1G>A