Canonical Allele Identifier: CA355965143

Gene: IDUA

Linked Data

• ClinVar Variation Id: 556588
• ClinVar RCV Id: RCV000672611
• dbSNP Id: rs1553917580
• MyVariant Identifiers: chr4:g.997260C>G (hg19) ; chr4:g.1003472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003472C>G , CM000666.2:g.1003472C>G	GRCh38
NC_000004.11:g.997260C>G , CM000666.1:g.997260C>G	GRCh37
NC_000004.10:g.987260C>G	NCBI36
NG_008103.1:g.21476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+2C>G	ENSP00000247933.4:n.1650+2C>G
ENST00000514224.2:c.1650+2C>G MANE Select	ENSP00000425081.2:n.1650+2C>G
ENST00000652070.1:n.1706+2C>G
ENST00000247933.8:c.1650+2C>G	ENSP00000247933.4:n.1650+2C>G
ENST00000514224.1:c.1254+2C>G	ENSP00000425081.1:n.1254+2C>G
ENST00000514417.1:n.42+2C>G
ENST00000514698.5:n.1757+2C>G
NM_000203.4:c.1650+2C>G	NP_000194.2:n.1650+2C>G
NR_110313.1:n.1738+2C>G
XM_006713882.2:c.1254+2C>G	XP_006713945.1:n.1254+2C>G
XM_011513459.1:c.1716+2C>G	XP_011511761.1:n.1716+2C>G
XM_011513460.1:c.1509+2C>G	XP_011511762.1:n.1509+2C>G
XM_011513461.1:c.1443+2C>G	XP_011511763.1:n.1443+2C>G
XM_011513462.1:c.1362+2C>G	XP_011511764.1:n.1362+2C>G
XM_011513463.1:c.1362+2C>G	XP_011511765.1:n.1362+2C>G
XR_924947.1:n.1906+2C>G
NM_000203.5:c.1650+2C>G MANE Select	NP_000194.2:n.1650+2C>G
NM_001363576.1:c.1254+2C>G	NP_001350505.1:n.1254+2C>G
XM_011513461.2:c.1443+2C>G	XP_011511763.1:n.1443+2C>G
XM_017008163.1:c.690+2C>G	XP_016863652.1:n.690+2C>G