Canonical Allele Identifier: CA355966127

Gene: IDUA

Linked Data

• ClinVar Variation Id: 960079
• ClinVar RCV Id: RCV001233538
• dbSNP Id: rs387906504
• MyVariant Identifiers: chr4:g.998179T>C (hg19) ; chr4:g.1004391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004391T>C , CM000666.2:g.1004391T>C	GRCh38
NC_000004.11:g.998179T>C , CM000666.1:g.998179T>C	GRCh37
NC_000004.10:g.988179T>C	NCBI36
NG_008103.1:g.22395T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1960T>C	ENSP00000247933.4:p.Ter654Arg
ENST00000514224.2:c.1960T>C MANE Select	ENSP00000425081.2:p.Ter654Arg
ENST00000652070.1:n.2016T>C
ENST00000247933.8:c.1960T>C	ENSP00000247933.4:p.Ter654Arg
ENST00000514224.1:c.1564T>C	ENSP00000425081.1:p.Ter522Arg
ENST00000514698.5:n.2071T>C
NM_000203.4:c.1960T>C	NP_000194.2:p.Ter654Arg
NR_110313.1:n.2052T>C
XM_006713882.2:c.1564T>C	XP_006713945.1:p.Ter522Arg
XM_011513459.1:c.2026T>C	XP_011511761.1:p.Ter676Arg
XM_011513460.1:c.1819T>C	XP_011511762.1:p.Ter607Arg
XM_011513461.1:c.1753T>C	XP_011511763.1:p.Ter585Arg
XM_011513462.1:c.1672T>C	XP_011511764.1:p.Ter558Arg
XM_011513463.1:c.1672T>C	XP_011511765.1:p.Ter558Arg
XR_924947.1:n.2220T>C
NM_000203.5:c.1960T>C MANE Select	NP_000194.2:p.Ter654Arg
NM_001363576.1:c.1564T>C	NP_001350505.1:p.Ter522Arg
XM_011513461.2:c.1753T>C	XP_011511763.1:p.Ter585Arg
XM_017008163.1:c.1000T>C	XP_016863652.1:p.Ter334Arg