Canonical Allele Identifier: CA355963632

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996568A>G (hg19) ; chr4:g.1002780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002780A>G , CM000666.2:g.1002780A>G	GRCh38
NC_000004.11:g.996568A>G , CM000666.1:g.996568A>G	GRCh37
NC_000004.10:g.986568A>G	NCBI36
NG_008103.1:g.20784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1238A>G	ENSP00000247933.4:p.Asp413Gly
ENST00000514224.2:c.1238A>G MANE Select	ENSP00000425081.2:p.Asp413Gly
ENST00000652070.1:n.1294A>G
ENST00000247933.8:c.1238A>G	ENSP00000247933.4:p.Asp413Gly
ENST00000502829.1:n.40A>G
ENST00000514224.1:c.842A>G	ENSP00000425081.1:p.Asp281Gly
ENST00000514698.5:n.1345A>G
NM_000203.4:c.1238A>G	NP_000194.2:p.Asp413Gly
NR_110313.1:n.1326A>G
XM_006713882.2:c.842A>G	XP_006713945.1:p.Asp281Gly
XM_011513459.1:c.1304A>G	XP_011511761.1:p.Asp435Gly
XM_011513460.1:c.1097A>G	XP_011511762.1:p.Asp366Gly
XM_011513461.1:c.1031A>G	XP_011511763.1:p.Asp344Gly
XM_011513462.1:c.950A>G	XP_011511764.1:p.Asp317Gly
XM_011513463.1:c.950A>G	XP_011511765.1:p.Asp317Gly
XR_924947.1:n.1307A>G
NM_000203.5:c.1238A>G MANE Select	NP_000194.2:p.Asp413Gly
NM_001363576.1:c.842A>G	NP_001350505.1:p.Asp281Gly
XM_011513461.2:c.1031A>G	XP_011511763.1:p.Asp344Gly
XM_017008163.1:c.278A>G	XP_016863652.1:p.Asp93Gly