Canonical Allele Identifier: CA145881

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92641
• ClinVar RCV Id: RCV001543713 ; RCV001543714 ; RCV001543715
• dbSNP Id: rs3755955
• ExAC: 4:994414 G / A
• gnomAD v2: 4-994414-G-A
• gnomAD v3: 4-1000626-G-A
• gnomAD v4: 4-1000626-G-A
• MyVariant Identifiers: chr4:g.994414G>A (hg19) ; chr4:g.1000626G>A (hg38)
• PubMed: PMID:24053568 ; PMID:24875751

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000626G>A , CM000666.2:g.1000626G>A	GRCh38
NC_000004.11:g.994414G>A , CM000666.1:g.994414G>A	GRCh37
NC_000004.10:g.984414G>A	NCBI36
NG_008103.1:g.18630G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.314G>A	ENSP00000247933.4:p.Arg105Gln
ENST00000514224.2:c.314G>A MANE Select	ENSP00000425081.2:p.Arg105Gln
ENST00000652070.1:n.370G>A
ENST00000247933.8:c.314G>A	ENSP00000247933.4:p.Arg105Gln
ENST00000502910.5:c.173G>A	ENSP00000422952.1:p.Arg58Gln
ENST00000504568.5:c.274G>A
ENST00000506561.5:n.323G>A
ENST00000508168.5:n.192G>A
ENST00000509948.5:c.107G>A	ENSP00000424227.1:p.Arg36Gln
ENST00000514192.5:c.131G>A	ENSP00000423685.1:p.Arg44Gln
ENST00000514224.1:c.-83G>A	ENSP00000425081.1:n.-83G>A
ENST00000514698.5:n.214G>A
NM_000203.4:c.314G>A	NP_000194.2:p.Arg105Gln
NR_110313.1:n.402G>A
XM_006713882.2:c.-83G>A	XP_006713945.1:n.-83G>A
XM_011513459.1:c.173G>A	XP_011511761.1:p.Arg58Gln
XM_011513460.1:c.173G>A	XP_011511762.1:p.Arg58Gln
XM_011513461.1:c.107G>A	XP_011511763.1:p.Arg36Gln
XM_011513462.1:c.-159G>A	XP_011511764.1:n.-159G>A
XM_011513463.1:c.-159G>A	XP_011511765.1:n.-159G>A
XR_924947.1:n.383G>A
NM_000203.5:c.314G>A MANE Select	NP_000194.2:p.Arg105Gln
NM_001363576.1:c.-83G>A	NP_001350505.1:n.-83G>A
XM_011513461.2:c.107G>A	XP_011511763.1:p.Arg36Gln
XM_017008163.1:c.-1153G>A	XP_016863652.1:n.-1153G>A