Canonical Allele Identifier: CA1433050879
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987539C= , CM000666.2:g.987539C= GRCh38
NC_000004.11:g.981327C= , CM000666.1:g.981327C= GRCh37
NC_000004.10:g.971327C= NCBI36
NG_008103.1:g.5543C=
NG_033042.1:g.10898G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.159-270C= (IDUA) ENSP00000247933.4:n.159-270C=
ENST00000514224.2:c.159-270C= (IDUA) MANE Select ENSP00000425081.2:n.159-270C=
ENST00000247933.8:c.159-270C= (IDUA) ENSP00000247933.4:n.159-270C=
ENST00000398520.6:c.576+3589G= (SLC26A1) ENSP00000381532.2:n.576+3589G=
ENST00000502910.5:c.158+297C= (IDUA) ENSP00000422952.1:n.158+297C=
ENST00000504568.5:c.157-270C= (IDUA)
ENST00000506561.5:n.168-270C= (IDUA)
ENST00000508168.5:n.177+297C= (IDUA)
ENST00000514698.5:n.199+297C= (IDUA)
ENST00000622731.4:c.576+3589G= (SLC26A1) ENSP00000483506.1:n.576+3589G=
NM_000203.4:c.159-270C= (IDUA) NP_000194.2:n.159-270C=
NM_134425.2:c.576+3589G= (SLC26A1) NP_602297.1:n.576+3589G=
NR_110313.1:n.247-270C= (IDUA)
XM_011513459.1:c.158+297C= (IDUA) XP_011511761.1:n.158+297C=
XM_011513460.1:c.158+297C= (IDUA) XP_011511762.1:n.158+297C=
XR_924947.1:n.228-270C= (IDUA)
NM_000203.5:c.159-270C= (IDUA) MANE Select NP_000194.2:n.159-270C=
XM_017008163.1:c.-1308-270C= (IDUA) XP_016863652.1:n.-1308-270C=
NM_134425.3:c.576+3589G= (SLC26A1) NP_602297.1:n.576+3589G=
NM_134425.4:c.576+3589G= (SLC26A1) NP_602297.1:n.576+3589G=