Canonical Allele Identifier: CA355961254

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1458772
• ClinVar RCV Id: RCV001956542
• dbSNP Id: rs2153021698
• MyVariant Identifiers: chr4:g.994669G>A (hg19) ; chr4:g.1000881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000881G>A , CM000666.2:g.1000881G>A	GRCh38
NC_000004.11:g.994669G>A , CM000666.1:g.994669G>A	GRCh37
NC_000004.10:g.984669G>A	NCBI36
NG_008103.1:g.18885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.386-1G>A	ENSP00000247933.4:n.386-1G>A
ENST00000514224.2:c.386-1G>A MANE Select	ENSP00000425081.2:n.386-1G>A
ENST00000652070.1:n.442-1G>A
ENST00000247933.8:c.386-1G>A	ENSP00000247933.4:n.386-1G>A
ENST00000502910.5:c.245-1G>A	ENSP00000422952.1:n.245-1G>A
ENST00000504568.5:c.346-1G>A
ENST00000506561.5:n.395-1G>A
ENST00000508168.5:n.264-1G>A
ENST00000509948.5:c.179-1G>A	ENSP00000424227.1:n.179-1G>A
ENST00000514192.5:c.203-1G>A	ENSP00000423685.1:n.203-1G>A
ENST00000514224.1:c.-11-1G>A	ENSP00000425081.1:n.-11-1G>A
ENST00000514698.5:n.286-1G>A
NM_000203.4:c.386-1G>A	NP_000194.2:n.386-1G>A
NR_110313.1:n.474-1G>A
XM_006713882.2:c.-11-1G>A	XP_006713945.1:n.-11-1G>A
XM_011513459.1:c.245-1G>A	XP_011511761.1:n.245-1G>A
XM_011513460.1:c.245-1G>A	XP_011511762.1:n.245-1G>A
XM_011513461.1:c.179-1G>A	XP_011511763.1:n.179-1G>A
XM_011513462.1:c.97G>A	XP_011511764.1:p.Gly33Arg
XM_011513463.1:c.97G>A	XP_011511765.1:p.Gly33Arg
XR_924947.1:n.455-1G>A
NM_000203.5:c.386-1G>A MANE Select	NP_000194.2:n.386-1G>A
NM_001363576.1:c.-11-1G>A	NP_001350505.1:n.-11-1G>A
XM_011513461.2:c.179-1G>A	XP_011511763.1:n.179-1G>A
XM_017008163.1:c.-1081-1G>A	XP_016863652.1:n.-1081-1G>A