Canonical Allele Identifier: CA2739265867

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2909118
• ClinVar RCV Id: RCV003756457

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003480A>T , CM000666.2:g.1003480A>T	GRCh38
NC_000004.11:g.997268A>T , CM000666.1:g.997268A>T	GRCh37
NC_000004.10:g.987268A>T	NCBI36
NG_008103.1:g.21484A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+10A>T	ENSP00000247933.4:n.1650+10A>T
ENST00000514224.2:c.1650+10A>T MANE Select	ENSP00000425081.2:n.1650+10A>T
ENST00000652070.1:n.1706+10A>T
ENST00000247933.8:c.1650+10A>T	ENSP00000247933.4:n.1650+10A>T
ENST00000514224.1:c.1254+10A>T	ENSP00000425081.1:n.1254+10A>T
ENST00000514417.1:n.42+10A>T
ENST00000514698.5:n.1757+10A>T
NM_000203.4:c.1650+10A>T	NP_000194.2:n.1650+10A>T
NR_110313.1:n.1738+10A>T
XM_006713882.2:c.1254+10A>T	XP_006713945.1:n.1254+10A>T
XM_011513459.1:c.1716+10A>T	XP_011511761.1:n.1716+10A>T
XM_011513460.1:c.1509+10A>T	XP_011511762.1:n.1509+10A>T
XM_011513461.1:c.1443+10A>T	XP_011511763.1:n.1443+10A>T
XM_011513462.1:c.1362+10A>T	XP_011511764.1:n.1362+10A>T
XM_011513463.1:c.1362+10A>T	XP_011511765.1:n.1362+10A>T
XR_924947.1:n.1906+10A>T
NM_000203.5:c.1650+10A>T MANE Select	NP_000194.2:n.1650+10A>T
NM_001363576.1:c.1254+10A>T	NP_001350505.1:n.1254+10A>T
XM_011513461.2:c.1443+10A>T	XP_011511763.1:n.1443+10A>T
XM_017008163.1:c.690+10A>T	XP_016863652.1:n.690+10A>T