Canonical Allele Identifier: CA256113
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11914
dbSNP Id: rs121965022
gnomAD v4: 4-987842-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987842C>A , CM000666.2:g.987842C>A GRCh38
NC_000004.11:g.981630C>A , CM000666.1:g.981630C>A GRCh37
NC_000004.10:g.971630C>A NCBI36
NG_008103.1:g.5846C>A
NG_033042.1:g.10595G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.192C>A (IDUA) ENSP00000247933.4:p.Tyr64Ter
ENST00000398516.3:c.*991G>T (SLC26A1) MANE Select ENSP00000381528.2:n.*991G>T
ENST00000514224.2:c.192C>A (IDUA) MANE Select ENSP00000425081.2:p.Tyr64Ter
ENST00000247933.8:c.192C>A (IDUA) ENSP00000247933.4:p.Tyr64Ter
ENST00000361661.6:c.*991G>T (SLC26A1) ENSP00000354721.2:n.*991G>T
ENST00000398520.6:c.576+3286G>T (SLC26A1) ENSP00000381532.2:n.576+3286G>T
ENST00000502910.5:c.158+600C>A (IDUA) ENSP00000422952.1:n.158+600C>A
ENST00000504568.5:c.190C>A (IDUA)
ENST00000506561.5:n.201C>A (IDUA)
ENST00000508168.5:n.177+600C>A (IDUA)
ENST00000514698.5:n.199+600C>A (IDUA)
ENST00000622731.4:c.576+3286G>T (SLC26A1) ENSP00000483506.1:n.576+3286G>T
NM_000203.4:c.192C>A (IDUA) NP_000194.2:p.Tyr64Ter
NM_022042.3:c.*991G>T (SLC26A1) NP_071325.2:n.*991G>T
NM_134425.2:c.576+3286G>T (SLC26A1) NP_602297.1:n.576+3286G>T
NM_213613.3:c.*991G>T (SLC26A1) NP_998778.1:n.*991G>T
NR_110313.1:n.280C>A (IDUA)
XM_006713856.2:c.*991G>T (SLC26A1) XP_006713919.1:n.*991G>T
XM_011513459.1:c.158+600C>A (IDUA) XP_011511761.1:n.158+600C>A
XM_011513460.1:c.158+600C>A (IDUA) XP_011511762.1:n.158+600C>A
XR_924947.1:n.261C>A (IDUA)
NM_000203.5:c.192C>A (IDUA) MANE Select NP_000194.2:p.Tyr64Ter
XM_017008163.1:c.-1275C>A (IDUA) XP_016863652.1:n.-1275C>A
NM_022042.4:c.*991G>T (SLC26A1) MANE Select NP_071325.2:n.*991G>T
NM_134425.3:c.576+3286G>T (SLC26A1) NP_602297.1:n.576+3286G>T
NM_213613.4:c.*991G>T (SLC26A1) NP_998778.1:n.*991G>T
NM_134425.4:c.576+3286G>T (SLC26A1) NP_602297.1:n.576+3286G>T