Canonical Allele Identifier: CA2802346

Gene: IDUA

Linked Data

• dbSNP Id: rs768223340
• ExAC: 4:997345 G / A
• gnomAD v2: 4-997345-G-A
• gnomAD v4: 4-1003557-G-A
• MyVariant Identifiers: chr4:g.997345G>A (hg19) ; chr4:g.1003557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003557G>A , CM000666.2:g.1003557G>A	GRCh38
NC_000004.11:g.997345G>A , CM000666.1:g.997345G>A	GRCh37
NC_000004.10:g.987345G>A	NCBI36
NG_008103.1:g.21561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1659G>A	ENSP00000247933.4:p.Arg553=
ENST00000514224.2:c.1659G>A MANE Select	ENSP00000425081.2:p.Arg553=
ENST00000652070.1:n.1715G>A
ENST00000247933.8:c.1659G>A	ENSP00000247933.4:p.Arg553=
ENST00000514224.1:c.1263G>A	ENSP00000425081.1:p.Arg421=
ENST00000514417.1:n.51G>A
ENST00000514698.5:n.1766G>A
NM_000203.4:c.1659G>A	NP_000194.2:p.Arg553=
NR_110313.1:n.1747G>A
XM_006713882.2:c.1263G>A	XP_006713945.1:p.Arg421=
XM_011513459.1:c.1725G>A	XP_011511761.1:p.Arg575=
XM_011513460.1:c.1518G>A	XP_011511762.1:p.Arg506=
XM_011513461.1:c.1452G>A	XP_011511763.1:p.Arg484=
XM_011513462.1:c.1371G>A	XP_011511764.1:p.Arg457=
XM_011513463.1:c.1371G>A	XP_011511765.1:p.Arg457=
XR_924947.1:n.1915G>A
NM_000203.5:c.1659G>A MANE Select	NP_000194.2:p.Arg553=
NM_001363576.1:c.1263G>A	NP_001350505.1:p.Arg421=
XM_011513461.2:c.1452G>A	XP_011511763.1:p.Arg484=
XM_017008163.1:c.699G>A	XP_016863652.1:p.Arg233=