Canonical Allele Identifier: CA2802065

Gene: IDUA

Linked Data

• ClinVar Variation Id: 265418
• ClinVar RCV Id: RCV000256027 ; RCV000668680 ; RCV000802940
• dbSNP Id: rs148789453
• ExAC: 4:995590 T / A
• gnomAD v2: 4-995590-T-A
• gnomAD v3: 4-1001802-T-A
• gnomAD v4: 4-1001802-T-A
• MyVariant Identifiers: chr4:g.995590T>A (hg19) ; chr4:g.1001802T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001802T>A , CM000666.2:g.1001802T>A	GRCh38
NC_000004.11:g.995590T>A , CM000666.1:g.995590T>A	GRCh37
NC_000004.10:g.985590T>A	NCBI36
NG_008103.1:g.19806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.713T>A	ENSP00000247933.4:p.Leu238Gln
ENST00000514224.2:c.713T>A MANE Select	ENSP00000425081.2:p.Leu238Gln
ENST00000652070.1:n.769T>A
ENST00000247933.8:c.713T>A	ENSP00000247933.4:p.Leu238Gln
ENST00000502910.5:c.572T>A	ENSP00000422952.1:p.Leu191Gln
ENST00000509948.5:c.506T>A	ENSP00000424227.1:p.Leu169Gln
ENST00000514192.5:c.530T>A	ENSP00000423685.1:p.Leu177Gln
ENST00000514224.1:c.317T>A	ENSP00000425081.1:p.Leu106Gln
ENST00000514698.5:n.613T>A
NM_000203.4:c.713T>A	NP_000194.2:p.Leu238Gln
NR_110313.1:n.801T>A
XM_006713882.2:c.317T>A	XP_006713945.1:p.Leu106Gln
XM_011513459.1:c.572T>A	XP_011511761.1:p.Leu191Gln
XM_011513460.1:c.572T>A	XP_011511762.1:p.Leu191Gln
XM_011513461.1:c.506T>A	XP_011511763.1:p.Leu169Gln
XM_011513462.1:c.425T>A	XP_011511764.1:p.Leu142Gln
XM_011513463.1:c.425T>A	XP_011511765.1:p.Leu142Gln
XR_924947.1:n.782T>A
NM_000203.5:c.713T>A MANE Select	NP_000194.2:p.Leu238Gln
NM_001363576.1:c.317T>A	NP_001350505.1:p.Leu106Gln
XM_011513461.2:c.506T>A	XP_011511763.1:p.Leu169Gln
XM_017008163.1:c.-248T>A	XP_016863652.1:n.-248T>A