Canonical Allele Identifier: CA355965211

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997374A>G (hg19) ; chr4:g.1003586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003586A>G , CM000666.2:g.1003586A>G	GRCh38
NC_000004.11:g.997374A>G , CM000666.1:g.997374A>G	GRCh37
NC_000004.10:g.987374A>G	NCBI36
NG_008103.1:g.21590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1688A>G	ENSP00000247933.4:p.Gln563Arg
ENST00000514224.2:c.1688A>G MANE Select	ENSP00000425081.2:p.Gln563Arg
ENST00000652070.1:n.1744A>G
ENST00000247933.8:c.1688A>G	ENSP00000247933.4:p.Gln563Arg
ENST00000514224.1:c.1292A>G	ENSP00000425081.1:p.Gln431Arg
ENST00000514417.1:n.80A>G
ENST00000514698.5:n.1795A>G
NM_000203.4:c.1688A>G	NP_000194.2:p.Gln563Arg
NR_110313.1:n.1776A>G
XM_006713882.2:c.1292A>G	XP_006713945.1:p.Gln431Arg
XM_011513459.1:c.1754A>G	XP_011511761.1:p.Gln585Arg
XM_011513460.1:c.1547A>G	XP_011511762.1:p.Gln516Arg
XM_011513461.1:c.1481A>G	XP_011511763.1:p.Gln494Arg
XM_011513462.1:c.1400A>G	XP_011511764.1:p.Gln467Arg
XM_011513463.1:c.1400A>G	XP_011511765.1:p.Gln467Arg
XR_924947.1:n.1944A>G
NM_000203.5:c.1688A>G MANE Select	NP_000194.2:p.Gln563Arg
NM_001363576.1:c.1292A>G	NP_001350505.1:p.Gln431Arg
XM_011513461.2:c.1481A>G	XP_011511763.1:p.Gln494Arg
XM_017008163.1:c.728A>G	XP_016863652.1:p.Gln243Arg