Canonical Allele Identifier: CA355961749

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432698
• ClinVar RCV Id: RCV003135722
• dbSNP Id: rs1715073200
• MyVariant Identifiers: chr4:g.995312G>T (hg19) ; chr4:g.1001524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001524G>T , CM000666.2:g.1001524G>T	GRCh38
NC_000004.11:g.995312G>T , CM000666.1:g.995312G>T	GRCh37
NC_000004.10:g.985312G>T	NCBI36
NG_008103.1:g.19528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.550G>T	ENSP00000247933.4:p.Asp184Tyr
ENST00000514224.2:c.550G>T MANE Select	ENSP00000425081.2:p.Asp184Tyr
ENST00000652070.1:n.606G>T
ENST00000247933.8:c.550G>T	ENSP00000247933.4:p.Asp184Tyr
ENST00000502910.5:c.409G>T	ENSP00000422952.1:p.Asp137Tyr
ENST00000504568.5:c.510G>T
ENST00000509948.5:c.343G>T	ENSP00000424227.1:p.Asp115Tyr
ENST00000514192.5:c.367G>T	ENSP00000423685.1:p.Asp123Tyr
ENST00000514224.1:c.154G>T	ENSP00000425081.1:p.Asp52Tyr
ENST00000514698.5:n.450G>T
NM_000203.4:c.550G>T	NP_000194.2:p.Asp184Tyr
NR_110313.1:n.638G>T
XM_006713882.2:c.154G>T	XP_006713945.1:p.Asp52Tyr
XM_011513459.1:c.409G>T	XP_011511761.1:p.Asp137Tyr
XM_011513460.1:c.409G>T	XP_011511762.1:p.Asp137Tyr
XM_011513461.1:c.343G>T	XP_011511763.1:p.Asp115Tyr
XM_011513462.1:c.262G>T	XP_011511764.1:p.Asp88Tyr
XM_011513463.1:c.262G>T	XP_011511765.1:p.Asp88Tyr
XR_924947.1:n.619G>T
NM_000203.5:c.550G>T MANE Select	NP_000194.2:p.Asp184Tyr
NM_001363576.1:c.154G>T	NP_001350505.1:p.Asp52Tyr
XM_011513461.2:c.343G>T	XP_011511763.1:p.Asp115Tyr
XM_017008163.1:c.-439G>T	XP_016863652.1:n.-439G>T