Canonical Allele Identifier: CA549264584

Gene: IDUA

Linked Data

• dbSNP Id: rs1333393755
• gnomAD v2: 4-997091-C-A
• gnomAD v4: 4-1003303-C-A
• MyVariant Identifiers: chr4:g.997091C>A (hg19) ; chr4:g.1003303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003303C>A , CM000666.2:g.1003303C>A	GRCh38
NC_000004.11:g.997091C>A , CM000666.1:g.997091C>A	GRCh37
NC_000004.10:g.987091C>A	NCBI36
NG_008103.1:g.21307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1525-42C>A	ENSP00000247933.4:n.1525-42C>A
ENST00000514224.2:c.1525-42C>A MANE Select	ENSP00000425081.2:n.1525-42C>A
ENST00000652070.1:n.1581-42C>A
ENST00000247933.8:c.1525-42C>A	ENSP00000247933.4:n.1525-42C>A
ENST00000502829.1:n.472C>A
ENST00000514224.1:c.1129-42C>A	ENSP00000425081.1:n.1129-42C>A
ENST00000514698.5:n.1632-42C>A
NM_000203.4:c.1525-42C>A	NP_000194.2:n.1525-42C>A
NR_110313.1:n.1613-42C>A
XM_006713882.2:c.1129-42C>A	XP_006713945.1:n.1129-42C>A
XM_011513459.1:c.1591-42C>A	XP_011511761.1:n.1591-42C>A
XM_011513460.1:c.1384-42C>A	XP_011511762.1:n.1384-42C>A
XM_011513461.1:c.1318-42C>A	XP_011511763.1:n.1318-42C>A
XM_011513462.1:c.1237-42C>A	XP_011511764.1:n.1237-42C>A
XM_011513463.1:c.1237-42C>A	XP_011511765.1:n.1237-42C>A
XR_924947.1:n.1739C>A
NM_000203.5:c.1525-42C>A MANE Select	NP_000194.2:n.1525-42C>A
NM_001363576.1:c.1129-42C>A	NP_001350505.1:n.1129-42C>A
XM_011513461.2:c.1318-42C>A	XP_011511763.1:n.1318-42C>A
XM_017008163.1:c.565-42C>A	XP_016863652.1:n.565-42C>A