Canonical Allele Identifier: CA145878
Community Standard Title: NM_000203.5(IDUA):c.24C>A (p.Ala8=)
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987108C>A , CM000666.2:g.987108C>A GRCh38
NC_000004.11:g.980896C>A , CM000666.1:g.980896C>A GRCh37
NC_000004.10:g.970896C>A NCBI36
NG_008103.1:g.5112C>A
NG_033042.1:g.11329G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.24C>A (IDUA) MANE Select NP_000194.2:p.Ala8=
ENST00000514224.2:c.24C>A (IDUA) MANE Select ENSP00000425081.2:p.Ala8=
NM_000203.4:c.24C>A (IDUA) NP_000194.2:p.Ala8=
NM_134425.2:c.576+4020G>T (SLC26A1) NP_602297.1:n.576+4020G>T
NM_134425.3:c.576+4020G>T (SLC26A1) NP_602297.1:n.576+4020G>T
NM_134425.4:c.576+4020G>T (SLC26A1) NP_602297.1:n.576+4020G>T
NR_110313.1:n.112C>A (IDUA)
ENST00000247933.8:c.24C>A (IDUA) ENSP00000247933.4:p.Ala8=
ENST00000247933.9:c.24C>A (IDUA) ENSP00000247933.4:p.Ala8=
ENST00000398520.6:c.576+4020G>T (SLC26A1) ENSP00000381532.2:n.576+4020G>T
ENST00000502910.5:c.24C>A (IDUA) ENSP00000422952.1:p.Ala8=
ENST00000504568.5:c.22C>A (IDUA)
ENST00000506561.5:n.33C>A (IDUA)
ENST00000508168.5:n.43C>A (IDUA)
ENST00000514698.5:n.65C>A (IDUA)
ENST00000622731.4:c.576+4020G>T (SLC26A1) ENSP00000483506.1:n.576+4020G>T
XM_011513459.1:c.24C>A (IDUA) XP_011511761.1:p.Ala8=
XM_011513460.1:c.24C>A (IDUA) XP_011511762.1:p.Ala8=
XM_017008163.1:c.-1443C>A (IDUA) XP_016863652.1:n.-1443C>A
XR_924947.1:n.93C>A (IDUA)