Canonical Allele Identifier: CA356984

Gene: IDUA

Linked Data

• ClinVar Variation Id: 222997
• ClinVar RCV Id: RCV000208592 ; RCV001169956
• dbSNP Id: rs764196171
• MyVariant Identifiers: chr4:g.996113C>A (hg19) ; chr4:g.1002325C>A (hg38)
• PubMed: PMID:20301341

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002325C>A , CM000666.2:g.1002325C>A	GRCh38
NC_000004.11:g.996113C>A , CM000666.1:g.996113C>A	GRCh37
NC_000004.10:g.986113C>A	NCBI36
NG_008103.1:g.20329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1029C>A	ENSP00000247933.4:p.Tyr343Ter
ENST00000514224.2:c.1029C>A MANE Select	ENSP00000425081.2:p.Tyr343Ter
ENST00000652070.1:n.1085C>A
ENST00000247933.8:c.1029C>A	ENSP00000247933.4:p.Tyr343Ter
ENST00000514224.1:c.633C>A	ENSP00000425081.1:p.Tyr211Ter
ENST00000514698.5:n.1136C>A
NM_000203.4:c.1029C>A	NP_000194.2:p.Tyr343Ter
NR_110313.1:n.1117C>A
XM_006713882.2:c.633C>A	XP_006713945.1:p.Tyr211Ter
XM_011513459.1:c.1095C>A	XP_011511761.1:p.Tyr365Ter
XM_011513460.1:c.888C>A	XP_011511762.1:p.Tyr296Ter
XM_011513461.1:c.822C>A	XP_011511763.1:p.Tyr274Ter
XM_011513462.1:c.741C>A	XP_011511764.1:p.Tyr247Ter
XM_011513463.1:c.741C>A	XP_011511765.1:p.Tyr247Ter
XR_924947.1:n.1098C>A
NM_000203.5:c.1029C>A MANE Select	NP_000194.2:p.Tyr343Ter
NM_001363576.1:c.633C>A	NP_001350505.1:p.Tyr211Ter
XM_011513461.2:c.822C>A	XP_011511763.1:p.Tyr274Ter
XM_017008163.1:c.69C>A	XP_016863652.1:p.Tyr23Ter