Canonical Allele Identifier: CA2669482717

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003223-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003223G>A , CM000666.2:g.1003223G>A	GRCh38
NC_000004.11:g.997011G>A , CM000666.1:g.997011G>A	GRCh37
NC_000004.10:g.987011G>A	NCBI36
NG_008103.1:g.21227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+66G>A	ENSP00000247933.4:n.1524+66G>A
ENST00000514224.2:c.1524+66G>A MANE Select	ENSP00000425081.2:n.1524+66G>A
ENST00000652070.1:n.1580+66G>A
ENST00000247933.8:c.1524+66G>A	ENSP00000247933.4:n.1524+66G>A
ENST00000502829.1:n.392G>A
ENST00000514224.1:c.1128+66G>A	ENSP00000425081.1:n.1128+66G>A
ENST00000514698.5:n.1631+66G>A
NM_000203.4:c.1524+66G>A	NP_000194.2:n.1524+66G>A
NR_110313.1:n.1612+66G>A
XM_006713882.2:c.1128+66G>A	XP_006713945.1:n.1128+66G>A
XM_011513459.1:c.1590+66G>A	XP_011511761.1:n.1590+66G>A
XM_011513460.1:c.1383+66G>A	XP_011511762.1:n.1383+66G>A
XM_011513461.1:c.1317+66G>A	XP_011511763.1:n.1317+66G>A
XM_011513462.1:c.1236+66G>A	XP_011511764.1:n.1236+66G>A
XM_011513463.1:c.1236+66G>A	XP_011511765.1:n.1236+66G>A
XR_924947.1:n.1659G>A
NM_000203.5:c.1524+66G>A MANE Select	NP_000194.2:n.1524+66G>A
NM_001363576.1:c.1128+66G>A	NP_001350505.1:n.1128+66G>A
XM_011513461.2:c.1317+66G>A	XP_011511763.1:n.1317+66G>A
XM_017008163.1:c.564+66G>A	XP_016863652.1:n.564+66G>A