Canonical Allele Identifier: CA438057986

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003464-C-A
• COSMIC: COSM4880140 ; COSM4880141
• MyVariant Identifiers: chr4:g.997252C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003464C>A , CM000666.2:g.1003464C>A	GRCh38
NC_000004.11:g.997252C>A , CM000666.1:g.997252C>A	GRCh37
NC_000004.10:g.987252C>A	NCBI36
NG_008103.1:g.21468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1644C>A	ENSP00000247933.4:p.Pro548=
ENST00000514224.2:c.1644C>A MANE Select	ENSP00000425081.2:p.Pro548=
ENST00000652070.1:n.1700C>A
ENST00000247933.8:c.1644C>A	ENSP00000247933.4:p.Pro548=
ENST00000514224.1:c.1248C>A	ENSP00000425081.1:p.Pro416=
ENST00000514417.1:n.36C>A
ENST00000514698.5:n.1751C>A
NM_000203.4:c.1644C>A	NP_000194.2:p.Pro548=
NR_110313.1:n.1732C>A
XM_006713882.2:c.1248C>A	XP_006713945.1:p.Pro416=
XM_011513459.1:c.1710C>A	XP_011511761.1:p.Pro570=
XM_011513460.1:c.1503C>A	XP_011511762.1:p.Pro501=
XM_011513461.1:c.1437C>A	XP_011511763.1:p.Pro479=
XM_011513462.1:c.1356C>A	XP_011511764.1:p.Pro452=
XM_011513463.1:c.1356C>A	XP_011511765.1:p.Pro452=
XR_924947.1:n.1900C>A
NM_000203.5:c.1644C>A MANE Select	NP_000194.2:p.Pro548=
NM_001363576.1:c.1248C>A	NP_001350505.1:p.Pro416=
XM_011513461.2:c.1437C>A	XP_011511763.1:p.Pro479=
XM_017008163.1:c.684C>A	XP_016863652.1:p.Pro228=