Canonical Allele Identifier: CA355965255

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1980496
• ClinVar RCV Id: RCV002761384
• dbSNP Id: rs753905054
• gnomAD v4: 4-1003607-A-T
• MyVariant Identifiers: chr4:g.997395A>T (hg19) ; chr4:g.1003607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003607A>T , CM000666.2:g.1003607A>T	GRCh38
NC_000004.11:g.997395A>T , CM000666.1:g.997395A>T	GRCh37
NC_000004.10:g.987395A>T	NCBI36
NG_008103.1:g.21611A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1709A>T	ENSP00000247933.4:p.Asp570Val
ENST00000514224.2:c.1709A>T MANE Select	ENSP00000425081.2:p.Asp570Val
ENST00000652070.1:n.1765A>T
ENST00000247933.8:c.1709A>T	ENSP00000247933.4:p.Asp570Val
ENST00000514224.1:c.1313A>T	ENSP00000425081.1:p.Asp438Val
ENST00000514417.1:n.101A>T
ENST00000514698.5:n.1816A>T
NM_000203.4:c.1709A>T	NP_000194.2:p.Asp570Val
NR_110313.1:n.1797A>T
XM_006713882.2:c.1313A>T	XP_006713945.1:p.Asp438Val
XM_011513459.1:c.1775A>T	XP_011511761.1:p.Asp592Val
XM_011513460.1:c.1568A>T	XP_011511762.1:p.Asp523Val
XM_011513461.1:c.1502A>T	XP_011511763.1:p.Asp501Val
XM_011513462.1:c.1421A>T	XP_011511764.1:p.Asp474Val
XM_011513463.1:c.1421A>T	XP_011511765.1:p.Asp474Val
XR_924947.1:n.1965A>T
NM_000203.5:c.1709A>T MANE Select	NP_000194.2:p.Asp570Val
NM_001363576.1:c.1313A>T	NP_001350505.1:p.Asp438Val
XM_011513461.2:c.1502A>T	XP_011511763.1:p.Asp501Val
XM_017008163.1:c.749A>T	XP_016863652.1:p.Asp250Val