Canonical Allele Identifier: CA355962385

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995816C>G (hg19) ; chr4:g.1002028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002028C>G , CM000666.2:g.1002028C>G	GRCh38
NC_000004.11:g.995816C>G , CM000666.1:g.995816C>G	GRCh37
NC_000004.10:g.985816C>G	NCBI36
NG_008103.1:g.20032C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.839C>G	ENSP00000247933.4:p.Ala280Gly
ENST00000514224.2:c.839C>G MANE Select	ENSP00000425081.2:p.Ala280Gly
ENST00000652070.1:n.895C>G
ENST00000247933.8:c.839C>G	ENSP00000247933.4:p.Ala280Gly
ENST00000514192.5:c.656C>G	ENSP00000423685.1:p.Ala219Gly
ENST00000514224.1:c.443C>G	ENSP00000425081.1:p.Ala148Gly
ENST00000514698.5:n.839C>G
NM_000203.4:c.839C>G	NP_000194.2:p.Ala280Gly
NR_110313.1:n.927C>G
XM_006713882.2:c.443C>G	XP_006713945.1:p.Ala148Gly
XM_011513459.1:c.798C>G	XP_011511761.1:p.Arg266=
XM_011513460.1:c.698C>G	XP_011511762.1:p.Ala233Gly
XM_011513461.1:c.632C>G	XP_011511763.1:p.Ala211Gly
XM_011513462.1:c.551C>G	XP_011511764.1:p.Ala184Gly
XM_011513463.1:c.551C>G	XP_011511765.1:p.Ala184Gly
XR_924947.1:n.908C>G
NM_000203.5:c.839C>G MANE Select	NP_000194.2:p.Ala280Gly
NM_001363576.1:c.443C>G	NP_001350505.1:p.Ala148Gly
XM_011513461.2:c.632C>G	XP_011511763.1:p.Ala211Gly
XM_017008163.1:c.-122C>G	XP_016863652.1:n.-122C>G