Canonical Allele Identifier: CA355962343

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002010-A-G
• MyVariant Identifiers: chr4:g.995798A>G (hg19) ; chr4:g.1002010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002010A>G , CM000666.2:g.1002010A>G	GRCh38
NC_000004.11:g.995798A>G , CM000666.1:g.995798A>G	GRCh37
NC_000004.10:g.985798A>G	NCBI36
NG_008103.1:g.20014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.821A>G	ENSP00000247933.4:p.Glu274Gly
ENST00000514224.2:c.821A>G MANE Select	ENSP00000425081.2:p.Glu274Gly
ENST00000652070.1:n.877A>G
ENST00000247933.8:c.821A>G	ENSP00000247933.4:p.Glu274Gly
ENST00000514192.5:c.638A>G	ENSP00000423685.1:p.Glu213Gly
ENST00000514224.1:c.425A>G	ENSP00000425081.1:p.Glu142Gly
ENST00000514698.5:n.821A>G
NM_000203.4:c.821A>G	NP_000194.2:p.Glu274Gly
NR_110313.1:n.909A>G
XM_006713882.2:c.425A>G	XP_006713945.1:p.Glu142Gly
XM_011513459.1:c.780A>G	XP_011511761.1:p.Gly260=
XM_011513460.1:c.680A>G	XP_011511762.1:p.Glu227Gly
XM_011513461.1:c.614A>G	XP_011511763.1:p.Glu205Gly
XM_011513462.1:c.533A>G	XP_011511764.1:p.Glu178Gly
XM_011513463.1:c.533A>G	XP_011511765.1:p.Glu178Gly
XR_924947.1:n.890A>G
NM_000203.5:c.821A>G MANE Select	NP_000194.2:p.Glu274Gly
NM_001363576.1:c.425A>G	NP_001350505.1:p.Glu142Gly
XM_011513461.2:c.614A>G	XP_011511763.1:p.Glu205Gly
XM_017008163.1:c.-140A>G	XP_016863652.1:n.-140A>G