Canonical Allele Identifier: CA1433071792
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003376C= , CM000666.2:g.1003376C= GRCh38
NC_000004.11:g.997164C= , CM000666.1:g.997164C= GRCh37
NC_000004.10:g.987164C= NCBI36
NG_008103.1:g.21380C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1556C= ENSP00000247933.4:p.Pro519=
ENST00000514224.2:c.1556C= MANE Select ENSP00000425081.2:p.Pro519=
ENST00000652070.1:n.1612C=
ENST00000247933.8:c.1556C= ENSP00000247933.4:p.Pro519=
ENST00000502829.1:n.545C=
ENST00000514224.1:c.1160C= ENSP00000425081.1:p.Pro387=
ENST00000514698.5:n.1663C=
NM_000203.4:c.1556C= NP_000194.2:p.Pro519=
NR_110313.1:n.1644C=
XM_006713882.2:c.1160C= XP_006713945.1:p.Pro387=
XM_011513459.1:c.1622C= XP_011511761.1:p.Pro541=
XM_011513460.1:c.1415C= XP_011511762.1:p.Pro472=
XM_011513461.1:c.1349C= XP_011511763.1:p.Pro450=
XM_011513462.1:c.1268C= XP_011511764.1:p.Pro423=
XM_011513463.1:c.1268C= XP_011511765.1:p.Pro423=
XR_924947.1:n.1812C=
NM_000203.5:c.1556C= MANE Select NP_000194.2:p.Pro519=
NM_001363576.1:c.1160C= NP_001350505.1:p.Pro387=
XM_011513461.2:c.1349C= XP_011511763.1:p.Pro450=
XM_017008163.1:c.596C= XP_016863652.1:p.Pro199=