Canonical Allele Identifier: CA2669476281
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Linked Data

gnomAD v4: 4-988038-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.988038T>C , CM000666.2:g.988038T>C GRCh38
NC_000004.11:g.981826T>C , CM000666.1:g.981826T>C GRCh37
NC_000004.10:g.971826T>C NCBI36
NG_008103.1:g.6042T>C
NG_033042.1:g.10399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.299+89T>C (IDUA) ENSP00000247933.4:n.299+89T>C
ENST00000398516.3:c.*795A>G (SLC26A1) MANE Select ENSP00000381528.2:n.*795A>G
ENST00000514224.2:c.299+89T>C (IDUA) MANE Select ENSP00000425081.2:n.299+89T>C
ENST00000247933.8:c.299+89T>C (IDUA) ENSP00000247933.4:n.299+89T>C
ENST00000361661.6:c.*795A>G (SLC26A1) ENSP00000354721.2:n.*795A>G
ENST00000398516.2:c.*795A>G (SLC26A1) ENSP00000381528.2:n.*795A>G
ENST00000398520.6:c.576+3090A>G (SLC26A1) ENSP00000381532.2:n.576+3090A>G
ENST00000502910.5:c.158+796T>C (IDUA) ENSP00000422952.1:n.158+796T>C
ENST00000504568.5:c.259+127T>C (IDUA)
ENST00000506561.5:n.308+89T>C (IDUA)
ENST00000508168.5:n.177+796T>C (IDUA)
ENST00000509744.1:n.35+89T>C (IDUA)
ENST00000514698.5:n.199+796T>C (IDUA)
ENST00000622731.4:c.576+3090A>G (SLC26A1) ENSP00000483506.1:n.576+3090A>G
NM_000203.4:c.299+89T>C (IDUA) NP_000194.2:n.299+89T>C
NM_022042.3:c.*795A>G (SLC26A1) NP_071325.2:n.*795A>G
NM_134425.2:c.576+3090A>G (SLC26A1) NP_602297.1:n.576+3090A>G
NM_213613.3:c.*795A>G (SLC26A1) NP_998778.1:n.*795A>G
NR_110313.1:n.387+89T>C (IDUA)
XM_006713856.2:c.*795A>G (SLC26A1) XP_006713919.1:n.*795A>G
XM_011513459.1:c.158+796T>C (IDUA) XP_011511761.1:n.158+796T>C
XM_011513460.1:c.158+796T>C (IDUA) XP_011511762.1:n.158+796T>C
XM_011513462.1:c.-815+89T>C (IDUA) XP_011511764.1:n.-815+89T>C
XR_924947.1:n.368+89T>C (IDUA)
NM_000203.5:c.299+89T>C (IDUA) MANE Select NP_000194.2:n.299+89T>C
XM_017008163.1:c.-1168+89T>C (IDUA) XP_016863652.1:n.-1168+89T>C
NM_022042.4:c.*795A>G (SLC26A1) MANE Select NP_071325.2:n.*795A>G
NM_134425.3:c.576+3090A>G (SLC26A1) NP_602297.1:n.576+3090A>G
NM_213613.4:c.*795A>G (SLC26A1) NP_998778.1:n.*795A>G
NM_134425.4:c.576+3090A>G (SLC26A1) NP_602297.1:n.576+3090A>G