Canonical Allele Identifier: CA2802340

Gene: IDUA

Linked Data

• dbSNP Id: rs757179185
• ExAC: 4:997336 G / A
• gnomAD v2: 4-997336-G-A
• gnomAD v4: 4-1003548-G-A
• MyVariant Identifiers: chr4:g.997336G>A (hg19) ; chr4:g.1003548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003548G>A , CM000666.2:g.1003548G>A	GRCh38
NC_000004.11:g.997336G>A , CM000666.1:g.997336G>A	GRCh37
NC_000004.10:g.987336G>A	NCBI36
NG_008103.1:g.21552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1651-1G>A	ENSP00000247933.4:n.1651-1G>A
ENST00000514224.2:c.1651-1G>A MANE Select	ENSP00000425081.2:n.1651-1G>A
ENST00000652070.1:n.1707-1G>A
ENST00000247933.8:c.1651-1G>A	ENSP00000247933.4:n.1651-1G>A
ENST00000514224.1:c.1255-1G>A	ENSP00000425081.1:n.1255-1G>A
ENST00000514417.1:n.43-1G>A
ENST00000514698.5:n.1758-1G>A
NM_000203.4:c.1651-1G>A	NP_000194.2:n.1651-1G>A
NR_110313.1:n.1739-1G>A
XM_006713882.2:c.1255-1G>A	XP_006713945.1:n.1255-1G>A
XM_011513459.1:c.1717-1G>A	XP_011511761.1:n.1717-1G>A
XM_011513460.1:c.1510-1G>A	XP_011511762.1:n.1510-1G>A
XM_011513461.1:c.1444-1G>A	XP_011511763.1:n.1444-1G>A
XM_011513462.1:c.1363-1G>A	XP_011511764.1:n.1363-1G>A
XM_011513463.1:c.1363-1G>A	XP_011511765.1:n.1363-1G>A
XR_924947.1:n.1907-1G>A
NM_000203.5:c.1651-1G>A MANE Select	NP_000194.2:n.1651-1G>A
NM_001363576.1:c.1255-1G>A	NP_001350505.1:n.1255-1G>A
XM_011513461.2:c.1444-1G>A	XP_011511763.1:n.1444-1G>A
XM_017008163.1:c.691-1G>A	XP_016863652.1:n.691-1G>A