Canonical Allele Identifier: CA91171139

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1653931
• ClinVar RCV Id: RCV002163581
• dbSNP Id: rs749848297
• gnomAD v2: 4-997378-G-A
• gnomAD v4: 4-1003590-G-A
• MyVariant Identifiers: chr4:g.997378G>A (hg19) ; chr4:g.1003590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003590G>A , CM000666.2:g.1003590G>A	GRCh38
NC_000004.11:g.997378G>A , CM000666.1:g.997378G>A	GRCh37
NC_000004.10:g.987378G>A	NCBI36
NG_008103.1:g.21594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1692G>A	ENSP00000247933.4:p.Leu564=
ENST00000514224.2:c.1692G>A MANE Select	ENSP00000425081.2:p.Leu564=
ENST00000652070.1:n.1748G>A
ENST00000247933.8:c.1692G>A	ENSP00000247933.4:p.Leu564=
ENST00000514224.1:c.1296G>A	ENSP00000425081.1:p.Leu432=
ENST00000514417.1:n.84G>A
ENST00000514698.5:n.1799G>A
NM_000203.4:c.1692G>A	NP_000194.2:p.Leu564=
NR_110313.1:n.1780G>A
XM_006713882.2:c.1296G>A	XP_006713945.1:p.Leu432=
XM_011513459.1:c.1758G>A	XP_011511761.1:p.Leu586=
XM_011513460.1:c.1551G>A	XP_011511762.1:p.Leu517=
XM_011513461.1:c.1485G>A	XP_011511763.1:p.Leu495=
XM_011513462.1:c.1404G>A	XP_011511764.1:p.Leu468=
XM_011513463.1:c.1404G>A	XP_011511765.1:p.Leu468=
XR_924947.1:n.1948G>A
NM_000203.5:c.1692G>A MANE Select	NP_000194.2:p.Leu564=
NM_001363576.1:c.1296G>A	NP_001350505.1:p.Leu432=
XM_011513461.2:c.1485G>A	XP_011511763.1:p.Leu495=
XM_017008163.1:c.732G>A	XP_016863652.1:p.Leu244=