Canonical Allele Identifier: CA438057462

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002038-C-A
• MyVariant Identifiers: chr4:g.995826C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002038C>A , CM000666.2:g.1002038C>A	GRCh38
NC_000004.11:g.995826C>A , CM000666.1:g.995826C>A	GRCh37
NC_000004.10:g.985826C>A	NCBI36
NG_008103.1:g.20042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.849C>A	ENSP00000247933.4:p.Ile283=
ENST00000514224.2:c.849C>A MANE Select	ENSP00000425081.2:p.Ile283=
ENST00000652070.1:n.905C>A
ENST00000247933.8:c.849C>A	ENSP00000247933.4:p.Ile283=
ENST00000514192.5:c.666C>A	ENSP00000423685.1:p.Ile222=
ENST00000514224.1:c.453C>A	ENSP00000425081.1:p.Ile151=
ENST00000514698.5:n.849C>A
NM_000203.4:c.849C>A	NP_000194.2:p.Ile283=
NR_110313.1:n.937C>A
XM_006713882.2:c.453C>A	XP_006713945.1:p.Ile151=
XM_011513459.1:c.808C>A	XP_011511761.1:p.Pro270Thr
XM_011513460.1:c.708C>A	XP_011511762.1:p.Ile236=
XM_011513461.1:c.642C>A	XP_011511763.1:p.Ile214=
XM_011513462.1:c.561C>A	XP_011511764.1:p.Ile187=
XM_011513463.1:c.561C>A	XP_011511765.1:p.Ile187=
XR_924947.1:n.918C>A
NM_000203.5:c.849C>A MANE Select	NP_000194.2:p.Ile283=
NM_001363576.1:c.453C>A	NP_001350505.1:p.Ile151=
XM_011513461.2:c.642C>A	XP_011511763.1:p.Ile214=
XM_017008163.1:c.-112C>A	XP_016863652.1:n.-112C>A