Canonical Allele Identifier: CA549264486

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1132262
• ClinVar RCV Id: RCV001466440
• dbSNP Id: rs1360168258
• gnomAD v2: 4-995762-G-A
• gnomAD v3: 4-1001974-G-A
• gnomAD v4: 4-1001974-G-A
• MyVariant Identifiers: chr4:g.995762G>A (hg19) ; chr4:g.1001974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001974G>A , CM000666.2:g.1001974G>A	GRCh38
NC_000004.11:g.995762G>A , CM000666.1:g.995762G>A	GRCh37
NC_000004.10:g.985762G>A	NCBI36
NG_008103.1:g.19978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-8G>A	ENSP00000247933.4:n.793-8G>A
ENST00000514224.2:c.793-8G>A MANE Select	ENSP00000425081.2:n.793-8G>A
ENST00000652070.1:n.849-8G>A
ENST00000247933.8:c.793-8G>A	ENSP00000247933.4:n.793-8G>A
ENST00000502910.5:c.652-8G>A	ENSP00000422952.1:n.652-8G>A
ENST00000514192.5:c.610-8G>A	ENSP00000423685.1:n.610-8G>A
ENST00000514224.1:c.397-8G>A	ENSP00000425081.1:n.397-8G>A
ENST00000514698.5:n.785G>A
NM_000203.4:c.793-8G>A	NP_000194.2:n.793-8G>A
NR_110313.1:n.881-8G>A
XM_006713882.2:c.397-8G>A	XP_006713945.1:n.397-8G>A
XM_011513459.1:c.744G>A	XP_011511761.1:p.Pro248=
XM_011513460.1:c.652-8G>A	XP_011511762.1:n.652-8G>A
XM_011513461.1:c.586-8G>A	XP_011511763.1:n.586-8G>A
XM_011513462.1:c.505-8G>A	XP_011511764.1:n.505-8G>A
XM_011513463.1:c.505-8G>A	XP_011511765.1:n.505-8G>A
XR_924947.1:n.862-8G>A
NM_000203.5:c.793-8G>A MANE Select	NP_000194.2:n.793-8G>A
NM_001363576.1:c.397-8G>A	NP_001350505.1:n.397-8G>A
XM_011513461.2:c.586-8G>A	XP_011511763.1:n.586-8G>A
XM_017008163.1:c.-168-8G>A	XP_016863652.1:n.-168-8G>A