Canonical Allele Identifier: CA355965051

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003430-T-A
• MyVariant Identifiers: chr4:g.997218T>A (hg19) ; chr4:g.1003430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003430T>A , CM000666.2:g.1003430T>A	GRCh38
NC_000004.11:g.997218T>A , CM000666.1:g.997218T>A	GRCh37
NC_000004.10:g.987218T>A	NCBI36
NG_008103.1:g.21434T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1610T>A	ENSP00000247933.4:p.Leu537Gln
ENST00000514224.2:c.1610T>A MANE Select	ENSP00000425081.2:p.Leu537Gln
ENST00000652070.1:n.1666T>A
ENST00000247933.8:c.1610T>A	ENSP00000247933.4:p.Leu537Gln
ENST00000514224.1:c.1214T>A	ENSP00000425081.1:p.Leu405Gln
ENST00000514417.1:n.2T>A
ENST00000514698.5:n.1717T>A
NM_000203.4:c.1610T>A	NP_000194.2:p.Leu537Gln
NR_110313.1:n.1698T>A
XM_006713882.2:c.1214T>A	XP_006713945.1:p.Leu405Gln
XM_011513459.1:c.1676T>A	XP_011511761.1:p.Leu559Gln
XM_011513460.1:c.1469T>A	XP_011511762.1:p.Leu490Gln
XM_011513461.1:c.1403T>A	XP_011511763.1:p.Leu468Gln
XM_011513462.1:c.1322T>A	XP_011511764.1:p.Leu441Gln
XM_011513463.1:c.1322T>A	XP_011511765.1:p.Leu441Gln
XR_924947.1:n.1866T>A
NM_000203.5:c.1610T>A MANE Select	NP_000194.2:p.Leu537Gln
NM_001363576.1:c.1214T>A	NP_001350505.1:p.Leu405Gln
XM_011513461.2:c.1403T>A	XP_011511763.1:p.Leu468Gln
XM_017008163.1:c.650T>A	XP_016863652.1:p.Leu217Gln