Canonical Allele Identifier: CA356987
Community Standard Title: NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987886C>T , CM000666.2:g.987886C>T GRCh38
NC_000004.11:g.981674C>T , CM000666.1:g.981674C>T GRCh37
NC_000004.10:g.971674C>T NCBI36
NG_008103.1:g.5890C>T
NG_033042.1:g.10551G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.236C>T (IDUA) MANE Select NP_000194.2:p.Ala79Val
NM_022042.4:c.*947G>A (SLC26A1) MANE Select NP_071325.2:n.*947G>A
ENST00000398516.3:c.*947G>A (SLC26A1) MANE Select ENSP00000381528.2:n.*947G>A
ENST00000514224.2:c.236C>T (IDUA) MANE Select ENSP00000425081.2:p.Ala79Val
NM_000203.4:c.236C>T (IDUA) NP_000194.2:p.Ala79Val
NM_022042.3:c.*947G>A (SLC26A1) NP_071325.2:n.*947G>A
NM_134425.2:c.576+3242G>A (SLC26A1) NP_602297.1:n.576+3242G>A
NM_134425.3:c.576+3242G>A (SLC26A1) NP_602297.1:n.576+3242G>A
NM_134425.4:c.576+3242G>A (SLC26A1) NP_602297.1:n.576+3242G>A
NM_213613.3:c.*947G>A (SLC26A1) NP_998778.1:n.*947G>A
NM_213613.4:c.*947G>A (SLC26A1) NP_998778.1:n.*947G>A
NR_110313.1:n.324C>T (IDUA)
ENST00000247933.8:c.236C>T (IDUA) ENSP00000247933.4:p.Ala79Val
ENST00000247933.9:c.236C>T (IDUA) ENSP00000247933.4:p.Ala79Val
ENST00000361661.6:c.*947G>A (SLC26A1) ENSP00000354721.2:n.*947G>A
ENST00000398520.6:c.576+3242G>A (SLC26A1) ENSP00000381532.2:n.576+3242G>A
ENST00000502910.5:c.158+644C>T (IDUA) ENSP00000422952.1:n.158+644C>T
ENST00000504568.5:c.234C>T (IDUA)
ENST00000506561.5:n.245C>T (IDUA)
ENST00000508168.5:n.177+644C>T (IDUA)
ENST00000514698.5:n.199+644C>T (IDUA)
ENST00000622731.4:c.576+3242G>A (SLC26A1) ENSP00000483506.1:n.576+3242G>A
XM_006713856.2:c.*947G>A (SLC26A1) XP_006713919.1:n.*947G>A
XM_011513459.1:c.158+644C>T (IDUA) XP_011511761.1:n.158+644C>T
XM_011513460.1:c.158+644C>T (IDUA) XP_011511762.1:n.158+644C>T
XM_011513462.1:c.-878C>T (IDUA) XP_011511764.1:n.-878C>T
XM_017008163.1:c.-1231C>T (IDUA) XP_016863652.1:n.-1231C>T
XR_924947.1:n.305C>T (IDUA)