Canonical Allele Identifier: CA355965219

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2623388
• ClinVar RCV Id: RCV003383796
• MyVariant Identifiers: chr4:g.997377T>C (hg19) ; chr4:g.1003589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003589T>C , CM000666.2:g.1003589T>C	GRCh38
NC_000004.11:g.997377T>C , CM000666.1:g.997377T>C	GRCh37
NC_000004.10:g.987377T>C	NCBI36
NG_008103.1:g.21593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1691T>C	ENSP00000247933.4:p.Leu564Pro
ENST00000514224.2:c.1691T>C MANE Select	ENSP00000425081.2:p.Leu564Pro
ENST00000652070.1:n.1747T>C
ENST00000247933.8:c.1691T>C	ENSP00000247933.4:p.Leu564Pro
ENST00000514224.1:c.1295T>C	ENSP00000425081.1:p.Leu432Pro
ENST00000514417.1:n.83T>C
ENST00000514698.5:n.1798T>C
NM_000203.4:c.1691T>C	NP_000194.2:p.Leu564Pro
NR_110313.1:n.1779T>C
XM_006713882.2:c.1295T>C	XP_006713945.1:p.Leu432Pro
XM_011513459.1:c.1757T>C	XP_011511761.1:p.Leu586Pro
XM_011513460.1:c.1550T>C	XP_011511762.1:p.Leu517Pro
XM_011513461.1:c.1484T>C	XP_011511763.1:p.Leu495Pro
XM_011513462.1:c.1403T>C	XP_011511764.1:p.Leu468Pro
XM_011513463.1:c.1403T>C	XP_011511765.1:p.Leu468Pro
XR_924947.1:n.1947T>C
NM_000203.5:c.1691T>C MANE Select	NP_000194.2:p.Leu564Pro
NM_001363576.1:c.1295T>C	NP_001350505.1:p.Leu432Pro
XM_011513461.2:c.1484T>C	XP_011511763.1:p.Leu495Pro
XM_017008163.1:c.731T>C	XP_016863652.1:p.Leu244Pro