Canonical Allele Identifier: CA355965059

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432728
• ClinVar RCV Id: RCV003135743
• gnomAD v4: 4-1003433-T-G
• MyVariant Identifiers: chr4:g.997221T>G (hg19) ; chr4:g.1003433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003433T>G , CM000666.2:g.1003433T>G	GRCh38
NC_000004.11:g.997221T>G , CM000666.1:g.997221T>G	GRCh37
NC_000004.10:g.987221T>G	NCBI36
NG_008103.1:g.21437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1613T>G	ENSP00000247933.4:p.Val538Gly
ENST00000514224.2:c.1613T>G MANE Select	ENSP00000425081.2:p.Val538Gly
ENST00000652070.1:n.1669T>G
ENST00000247933.8:c.1613T>G	ENSP00000247933.4:p.Val538Gly
ENST00000514224.1:c.1217T>G	ENSP00000425081.1:p.Val406Gly
ENST00000514417.1:n.5T>G
ENST00000514698.5:n.1720T>G
NM_000203.4:c.1613T>G	NP_000194.2:p.Val538Gly
NR_110313.1:n.1701T>G
XM_006713882.2:c.1217T>G	XP_006713945.1:p.Val406Gly
XM_011513459.1:c.1679T>G	XP_011511761.1:p.Val560Gly
XM_011513460.1:c.1472T>G	XP_011511762.1:p.Val491Gly
XM_011513461.1:c.1406T>G	XP_011511763.1:p.Val469Gly
XM_011513462.1:c.1325T>G	XP_011511764.1:p.Val442Gly
XM_011513463.1:c.1325T>G	XP_011511765.1:p.Val442Gly
XR_924947.1:n.1869T>G
NM_000203.5:c.1613T>G MANE Select	NP_000194.2:p.Val538Gly
NM_001363576.1:c.1217T>G	NP_001350505.1:p.Val406Gly
XM_011513461.2:c.1406T>G	XP_011511763.1:p.Val469Gly
XM_017008163.1:c.653T>G	XP_016863652.1:p.Val218Gly