Canonical Allele Identifier: CA2802357

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432710
• ClinVar RCV Id: RCV003135732 ; RCV003778708
• dbSNP Id: rs753905054
• ExAC: 4:997395 A / G
• gnomAD v2: 4-997395-A-G
• gnomAD v3: 4-1003607-A-G
• gnomAD v4: 4-1003607-A-G
• MyVariant Identifiers: chr4:g.997395A>G (hg19) ; chr4:g.1003607A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1709A>G	ENSP00000247933.4:p.Asp570Gly
ENST00000514224.2:c.1709A>G MANE Select	ENSP00000425081.2:p.Asp570Gly
ENST00000652070.1:n.1765A>G
ENST00000247933.8:c.1709A>G	ENSP00000247933.4:p.Asp570Gly
ENST00000514224.1:c.1313A>G	ENSP00000425081.1:p.Asp438Gly
ENST00000514417.1:n.101A>G
ENST00000514698.5:n.1816A>G
NM_000203.4:c.1709A>G	NP_000194.2:p.Asp570Gly
NR_110313.1:n.1797A>G
XM_006713882.2:c.1313A>G	XP_006713945.1:p.Asp438Gly
XM_011513459.1:c.1775A>G	XP_011511761.1:p.Asp592Gly
XM_011513460.1:c.1568A>G	XP_011511762.1:p.Asp523Gly
XM_011513461.1:c.1502A>G	XP_011511763.1:p.Asp501Gly
XM_011513462.1:c.1421A>G	XP_011511764.1:p.Asp474Gly
XM_011513463.1:c.1421A>G	XP_011511765.1:p.Asp474Gly
XR_924947.1:n.1965A>G
NM_000203.5:c.1709A>G MANE Select	NP_000194.2:p.Asp570Gly
NM_001363576.1:c.1313A>G	NP_001350505.1:p.Asp438Gly
XM_011513461.2:c.1502A>G	XP_011511763.1:p.Asp501Gly
XM_017008163.1:c.749A>G	XP_016863652.1:p.Asp250Gly