Canonical Allele Identifier: CA355962285

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2198033
• ClinVar RCV Id: RCV002629074
• gnomAD v4: 4-1001980-A-G
• MyVariant Identifiers: chr4:g.995768A>G (hg19) ; chr4:g.1001980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001980A>G , CM000666.2:g.1001980A>G	GRCh38
NC_000004.11:g.995768A>G , CM000666.1:g.995768A>G	GRCh37
NC_000004.10:g.985768A>G	NCBI36
NG_008103.1:g.19984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-2A>G	ENSP00000247933.4:n.793-2A>G
ENST00000514224.2:c.793-2A>G MANE Select	ENSP00000425081.2:n.793-2A>G
ENST00000652070.1:n.849-2A>G
ENST00000247933.8:c.793-2A>G	ENSP00000247933.4:n.793-2A>G
ENST00000502910.5:c.652-2A>G	ENSP00000422952.1:n.652-2A>G
ENST00000514192.5:c.610-2A>G	ENSP00000423685.1:n.610-2A>G
ENST00000514224.1:c.397-2A>G	ENSP00000425081.1:n.397-2A>G
ENST00000514698.5:n.791A>G
NM_000203.4:c.793-2A>G	NP_000194.2:n.793-2A>G
NR_110313.1:n.881-2A>G
XM_006713882.2:c.397-2A>G	XP_006713945.1:n.397-2A>G
XM_011513459.1:c.750A>G	XP_011511761.1:p.Ala250=
XM_011513460.1:c.652-2A>G	XP_011511762.1:n.652-2A>G
XM_011513461.1:c.586-2A>G	XP_011511763.1:n.586-2A>G
XM_011513462.1:c.505-2A>G	XP_011511764.1:n.505-2A>G
XM_011513463.1:c.505-2A>G	XP_011511765.1:n.505-2A>G
XR_924947.1:n.862-2A>G
NM_000203.5:c.793-2A>G MANE Select	NP_000194.2:n.793-2A>G
NM_001363576.1:c.397-2A>G	NP_001350505.1:n.397-2A>G
XM_011513461.2:c.586-2A>G	XP_011511763.1:n.586-2A>G
XM_017008163.1:c.-168-2A>G	XP_016863652.1:n.-168-2A>G