Canonical Allele Identifier: CA1433051025
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987784T= , CM000666.2:g.987784T= GRCh38
NC_000004.11:g.981572T= , CM000666.1:g.981572T= GRCh37
NC_000004.10:g.971572T= NCBI36
NG_008103.1:g.5788T=
NG_033042.1:g.10653A=

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.159-25T= (IDUA) ENSP00000247933.4:n.159-25T=
ENST00000398516.3:c.*1049A= (SLC26A1) MANE Select ENSP00000381528.2:n.*1049A=
ENST00000514224.2:c.159-25T= (IDUA) MANE Select ENSP00000425081.2:n.159-25T=
ENST00000247933.8:c.159-25T= (IDUA) ENSP00000247933.4:n.159-25T=
ENST00000361661.6:c.*1049A= (SLC26A1) ENSP00000354721.2:n.*1049A=
ENST00000398520.6:c.576+3344A= (SLC26A1) ENSP00000381532.2:n.576+3344A=
ENST00000502910.5:c.158+542T= (IDUA) ENSP00000422952.1:n.158+542T=
ENST00000504568.5:c.157-25T= (IDUA)
ENST00000506561.5:n.168-25T= (IDUA)
ENST00000508168.5:n.177+542T= (IDUA)
ENST00000514698.5:n.199+542T= (IDUA)
ENST00000622731.4:c.576+3344A= (SLC26A1) ENSP00000483506.1:n.576+3344A=
NM_000203.4:c.159-25T= (IDUA) NP_000194.2:n.159-25T=
NM_022042.3:c.*1049A= (SLC26A1) NP_071325.2:n.*1049A=
NM_134425.2:c.576+3344A= (SLC26A1) NP_602297.1:n.576+3344A=
NM_213613.3:c.*1049A= (SLC26A1) NP_998778.1:n.*1049A=
NR_110313.1:n.247-25T= (IDUA)
XM_006713856.2:c.*1049A= (SLC26A1) XP_006713919.1:n.*1049A=
XM_011513459.1:c.158+542T= (IDUA) XP_011511761.1:n.158+542T=
XM_011513460.1:c.158+542T= (IDUA) XP_011511762.1:n.158+542T=
XR_924947.1:n.228-25T= (IDUA)
NM_000203.5:c.159-25T= (IDUA) MANE Select NP_000194.2:n.159-25T=
XM_017008163.1:c.-1308-25T= (IDUA) XP_016863652.1:n.-1308-25T=
NM_022042.4:c.*1049A= (SLC26A1) MANE Select NP_071325.2:n.*1049A=
NM_134425.3:c.576+3344A= (SLC26A1) NP_602297.1:n.576+3344A=
NM_213613.4:c.*1049A= (SLC26A1) NP_998778.1:n.*1049A=
NM_134425.4:c.576+3344A= (SLC26A1) NP_602297.1:n.576+3344A=