Canonical Allele Identifier: CA2580070694

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1983764
• ClinVar RCV Id: RCV002770434
• gnomAD v4: 4-1003486-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003486C>T , CM000666.2:g.1003486C>T	GRCh38
NC_000004.11:g.997274C>T , CM000666.1:g.997274C>T	GRCh37
NC_000004.10:g.987274C>T	NCBI36
NG_008103.1:g.21490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+16C>T	ENSP00000247933.4:n.1650+16C>T
ENST00000514224.2:c.1650+16C>T MANE Select	ENSP00000425081.2:n.1650+16C>T
ENST00000652070.1:n.1706+16C>T
ENST00000247933.8:c.1650+16C>T	ENSP00000247933.4:n.1650+16C>T
ENST00000514224.1:c.1254+16C>T	ENSP00000425081.1:n.1254+16C>T
ENST00000514417.1:n.42+16C>T
ENST00000514698.5:n.1757+16C>T
NM_000203.4:c.1650+16C>T	NP_000194.2:n.1650+16C>T
NR_110313.1:n.1738+16C>T
XM_006713882.2:c.1254+16C>T	XP_006713945.1:n.1254+16C>T
XM_011513459.1:c.1716+16C>T	XP_011511761.1:n.1716+16C>T
XM_011513460.1:c.1509+16C>T	XP_011511762.1:n.1509+16C>T
XM_011513461.1:c.1443+16C>T	XP_011511763.1:n.1443+16C>T
XM_011513462.1:c.1362+16C>T	XP_011511764.1:n.1362+16C>T
XM_011513463.1:c.1362+16C>T	XP_011511765.1:n.1362+16C>T
XR_924947.1:n.1906+16C>T
NM_000203.5:c.1650+16C>T MANE Select	NP_000194.2:n.1650+16C>T
NM_001363576.1:c.1254+16C>T	NP_001350505.1:n.1254+16C>T
XM_011513461.2:c.1443+16C>T	XP_011511763.1:n.1443+16C>T
XM_017008163.1:c.690+16C>T	XP_016863652.1:n.690+16C>T