Canonical Allele Identifier: CA355965233

Gene: IDUA

Linked Data

• dbSNP Id: rs1715260293
• gnomAD v3: 4-1003598-T-A
• gnomAD v4: 4-1003598-T-A
• MyVariant Identifiers: chr4:g.997386T>A (hg19) ; chr4:g.1003598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003598T>A , CM000666.2:g.1003598T>A	GRCh38
NC_000004.11:g.997386T>A , CM000666.1:g.997386T>A	GRCh37
NC_000004.10:g.987386T>A	NCBI36
NG_008103.1:g.21602T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1700T>A	ENSP00000247933.4:p.Val567Asp
ENST00000514224.2:c.1700T>A MANE Select	ENSP00000425081.2:p.Val567Asp
ENST00000652070.1:n.1756T>A
ENST00000247933.8:c.1700T>A	ENSP00000247933.4:p.Val567Asp
ENST00000514224.1:c.1304T>A	ENSP00000425081.1:p.Val435Asp
ENST00000514417.1:n.92T>A
ENST00000514698.5:n.1807T>A
NM_000203.4:c.1700T>A	NP_000194.2:p.Val567Asp
NR_110313.1:n.1788T>A
XM_006713882.2:c.1304T>A	XP_006713945.1:p.Val435Asp
XM_011513459.1:c.1766T>A	XP_011511761.1:p.Val589Asp
XM_011513460.1:c.1559T>A	XP_011511762.1:p.Val520Asp
XM_011513461.1:c.1493T>A	XP_011511763.1:p.Val498Asp
XM_011513462.1:c.1412T>A	XP_011511764.1:p.Val471Asp
XM_011513463.1:c.1412T>A	XP_011511765.1:p.Val471Asp
XR_924947.1:n.1956T>A
NM_000203.5:c.1700T>A MANE Select	NP_000194.2:p.Val567Asp
NM_001363576.1:c.1304T>A	NP_001350505.1:p.Val435Asp
XM_011513461.2:c.1493T>A	XP_011511763.1:p.Val498Asp
XM_017008163.1:c.740T>A	XP_016863652.1:p.Val247Asp