Canonical Allele Identifier: CA438058047

Gene: IDUA

Linked Data

• ClinVar Variation Id: 755395
• ClinVar RCV Id: RCV001460067
• dbSNP Id: rs1577544372
• MyVariant Identifiers: chr4:g.997381T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003593T>C , CM000666.2:g.1003593T>C	GRCh38
NC_000004.11:g.997381T>C , CM000666.1:g.997381T>C	GRCh37
NC_000004.10:g.987381T>C	NCBI36
NG_008103.1:g.21597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1695T>C	ENSP00000247933.4:p.Val565=
ENST00000514224.2:c.1695T>C MANE Select	ENSP00000425081.2:p.Val565=
ENST00000652070.1:n.1751T>C
ENST00000247933.8:c.1695T>C	ENSP00000247933.4:p.Val565=
ENST00000514224.1:c.1299T>C	ENSP00000425081.1:p.Val433=
ENST00000514417.1:n.87T>C
ENST00000514698.5:n.1802T>C
NM_000203.4:c.1695T>C	NP_000194.2:p.Val565=
NR_110313.1:n.1783T>C
XM_006713882.2:c.1299T>C	XP_006713945.1:p.Val433=
XM_011513459.1:c.1761T>C	XP_011511761.1:p.Val587=
XM_011513460.1:c.1554T>C	XP_011511762.1:p.Val518=
XM_011513461.1:c.1488T>C	XP_011511763.1:p.Val496=
XM_011513462.1:c.1407T>C	XP_011511764.1:p.Val469=
XM_011513463.1:c.1407T>C	XP_011511765.1:p.Val469=
XR_924947.1:n.1951T>C
NM_000203.5:c.1695T>C MANE Select	NP_000194.2:p.Val565=
NM_001363576.1:c.1299T>C	NP_001350505.1:p.Val433=
XM_011513461.2:c.1488T>C	XP_011511763.1:p.Val496=
XM_017008163.1:c.735T>C	XP_016863652.1:p.Val245=