Canonical Allele Identifier: CA1433050842
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987471C= , CM000666.2:g.987471C= GRCh38
NC_000004.11:g.981259C= , CM000666.1:g.981259C= GRCh37
NC_000004.10:g.971259C= NCBI36
NG_008103.1:g.5475C=
NG_033042.1:g.10966G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.158+229C= (IDUA) ENSP00000247933.4:n.158+229C=
ENST00000514224.2:c.158+229C= (IDUA) MANE Select ENSP00000425081.2:n.158+229C=
ENST00000247933.8:c.158+229C= (IDUA) ENSP00000247933.4:n.158+229C=
ENST00000398520.6:c.576+3657G= (SLC26A1) ENSP00000381532.2:n.576+3657G=
ENST00000502910.5:c.158+229C= (IDUA) ENSP00000422952.1:n.158+229C=
ENST00000504568.5:c.156+229C= (IDUA)
ENST00000506561.5:n.167+229C= (IDUA)
ENST00000508168.5:n.177+229C= (IDUA)
ENST00000514698.5:n.199+229C= (IDUA)
ENST00000622731.4:c.576+3657G= (SLC26A1) ENSP00000483506.1:n.576+3657G=
NM_000203.4:c.158+229C= (IDUA) NP_000194.2:n.158+229C=
NM_134425.2:c.576+3657G= (SLC26A1) NP_602297.1:n.576+3657G=
NR_110313.1:n.246+229C= (IDUA)
XM_011513459.1:c.158+229C= (IDUA) XP_011511761.1:n.158+229C=
XM_011513460.1:c.158+229C= (IDUA) XP_011511762.1:n.158+229C=
XR_924947.1:n.227+229C= (IDUA)
NM_000203.5:c.158+229C= (IDUA) MANE Select NP_000194.2:n.158+229C=
XM_017008163.1:c.-1309+229C= (IDUA) XP_016863652.1:n.-1309+229C=
NM_134425.3:c.576+3657G= (SLC26A1) NP_602297.1:n.576+3657G=
NM_134425.4:c.576+3657G= (SLC26A1) NP_602297.1:n.576+3657G=