Canonical Allele Identifier: CA356994
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 222993
dbSNP Id: rs758452450

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987873G>A , CM000666.2:g.987873G>A GRCh38
NC_000004.11:g.981661G>A , CM000666.1:g.981661G>A GRCh37
NC_000004.10:g.971661G>A NCBI36
NG_008103.1:g.5877G>A
NG_033042.1:g.10564C>T

Transcript Alleles

HGVS Amino-acid change
NM_000203.4:c.223G>A (IDUA) VV NP_000194.2:p.Ala75Thr
NM_022042.3:c.*960C>T (SLC26A1) VV NP_071325.2:p.=
NM_134425.2:c.576+3255C>T (SLC26A1) VV NP_602297.1:p.=
NM_213613.3:c.*960C>T (SLC26A1) VV NP_998778.1:p.=
NR_110313.1:n.311G>A (IDUA)
XM_006713856.2:c.*960C>T (SLC26A1) XP_006713919.1:p.=
XM_011513459.1:c.158+631G>A (IDUA) XP_011511761.1:p.=
XM_011513460.1:c.158+631G>A (IDUA) XP_011511762.1:p.=
XM_011513462.1:c.-891G>A (IDUA) XP_011511764.1:p.=
XR_924947.1:n.292G>A (IDUA)
NM_000203.5:c.223G>A (IDUA) VV NP_000194.2:p.Ala75Thr
XM_017008163.1:c.-1244G>A (IDUA) XP_016863652.1:p.=
NM_022042.4:c.*960C>T (SLC26A1) VV NP_071325.2:p.=
ENST00000247933.8:c.223G>A ENSP00000247933.4:p.Ala75Thr
ENST00000361661.6:c.*960C>T ENSP00000354721.2:p.=
ENST00000398520.6:c.576+3255C>T ENSP00000381532.2:p.=
ENST00000502910.5:c.158+631G>A ENSP00000422952.1:p.=
ENST00000504568.5:n.221G>A
ENST00000506561.5:n.232G>A
ENST00000508168.5:n.177+631G>A
ENST00000514698.5:n.199+631G>A
ENST00000622731.4:c.576+3255C>T ENSP00000483506.1:p.=