Canonical Allele Identifier: CA784303831

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2911419
• ClinVar RCV Id: RCV003756489
• dbSNP Id: rs1422316352
• gnomAD v3: 4-1001898-C-A
• gnomAD v4: 4-1001898-C-A
• MyVariant Identifiers: chr4:g.995686C>A (hg19) ; chr4:g.1001898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001898C>A , CM000666.2:g.1001898C>A	GRCh38
NC_000004.11:g.995686C>A , CM000666.1:g.995686C>A	GRCh37
NC_000004.10:g.985686C>A	NCBI36
NG_008103.1:g.19902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792+17C>A	ENSP00000247933.4:n.792+17C>A
ENST00000514224.2:c.792+17C>A MANE Select	ENSP00000425081.2:n.792+17C>A
ENST00000652070.1:n.848+17C>A
ENST00000247933.8:c.792+17C>A	ENSP00000247933.4:n.792+17C>A
ENST00000502910.5:c.651+17C>A	ENSP00000422952.1:n.651+17C>A
ENST00000514192.5:c.609+17C>A	ENSP00000423685.1:n.609+17C>A
ENST00000514224.1:c.396+17C>A	ENSP00000425081.1:n.396+17C>A
ENST00000514698.5:n.709C>A
NM_000203.4:c.792+17C>A	NP_000194.2:n.792+17C>A
NR_110313.1:n.880+17C>A
XM_006713882.2:c.396+17C>A	XP_006713945.1:n.396+17C>A
XM_011513459.1:c.668C>A	XP_011511761.1:p.Pro223Gln
XM_011513460.1:c.651+17C>A	XP_011511762.1:n.651+17C>A
XM_011513461.1:c.585+17C>A	XP_011511763.1:n.585+17C>A
XM_011513462.1:c.504+17C>A	XP_011511764.1:n.504+17C>A
XM_011513463.1:c.504+17C>A	XP_011511765.1:n.504+17C>A
XR_924947.1:n.861+17C>A
NM_000203.5:c.792+17C>A MANE Select	NP_000194.2:n.792+17C>A
NM_001363576.1:c.396+17C>A	NP_001350505.1:n.396+17C>A
XM_011513461.2:c.585+17C>A	XP_011511763.1:n.585+17C>A
XM_017008163.1:c.-169+17C>A	XP_016863652.1:n.-169+17C>A