Canonical Allele Identifier: CA438058036
Gene: IDUA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.997366C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003578C>A , CM000666.2:g.1003578C>A GRCh38
NC_000004.11:g.997366C>A , CM000666.1:g.997366C>A GRCh37
NC_000004.10:g.987366C>A NCBI36
NG_008103.1:g.21582C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1680C>A ENSP00000247933.4:p.Thr560=
ENST00000514224.2:c.1680C>A MANE Select ENSP00000425081.2:p.Thr560=
ENST00000652070.1:n.1736C>A
ENST00000247933.8:c.1680C>A ENSP00000247933.4:p.Thr560=
ENST00000514224.1:c.1284C>A ENSP00000425081.1:p.Thr428=
ENST00000514417.1:n.72C>A
ENST00000514698.5:n.1787C>A
NM_000203.4:c.1680C>A NP_000194.2:p.Thr560=
NR_110313.1:n.1768C>A
XM_006713882.2:c.1284C>A XP_006713945.1:p.Thr428=
XM_011513459.1:c.1746C>A XP_011511761.1:p.Thr582=
XM_011513460.1:c.1539C>A XP_011511762.1:p.Thr513=
XM_011513461.1:c.1473C>A XP_011511763.1:p.Thr491=
XM_011513462.1:c.1392C>A XP_011511764.1:p.Thr464=
XM_011513463.1:c.1392C>A XP_011511765.1:p.Thr464=
XR_924947.1:n.1936C>A
NM_000203.5:c.1680C>A MANE Select NP_000194.2:p.Thr560=
NM_001363576.1:c.1284C>A NP_001350505.1:p.Thr428=
XM_011513461.2:c.1473C>A XP_011511763.1:p.Thr491=
XM_017008163.1:c.720C>A XP_016863652.1:p.Thr240=