Canonical Allele Identifier: CA2801140

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987877A>G , CM000666.2:g.987877A>G	GRCh38
NC_000004.11:g.981665A>G , CM000666.1:g.981665A>G	GRCh37
NC_000004.10:g.971665A>G	NCBI36
NG_008103.1:g.5881A>G
NG_033042.1:g.10560T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.227A>G (IDUA) MANE Select	NP_000194.2:p.Tyr76Cys
NM_022042.4:c.*956T>C (SLC26A1) MANE Select	NP_071325.2:n.*956T>C
ENST00000398516.3:c.*956T>C (SLC26A1) MANE Select	ENSP00000381528.2:n.*956T>C
ENST00000514224.2:c.227A>G (IDUA) MANE Select	ENSP00000425081.2:p.Tyr76Cys
NM_000203.4:c.227A>G (IDUA)	NP_000194.2:p.Tyr76Cys
NM_022042.3:c.*956T>C (SLC26A1)	NP_071325.2:n.*956T>C
NM_134425.2:c.576+3251T>C (SLC26A1)	NP_602297.1:n.576+3251T>C
NM_134425.3:c.576+3251T>C (SLC26A1)	NP_602297.1:n.576+3251T>C
NM_134425.4:c.576+3251T>C (SLC26A1)	NP_602297.1:n.576+3251T>C
NM_213613.3:c.*956T>C (SLC26A1)	NP_998778.1:n.*956T>C
NM_213613.4:c.*956T>C (SLC26A1)	NP_998778.1:n.*956T>C
NR_110313.1:n.315A>G (IDUA)
ENST00000247933.8:c.227A>G (IDUA)	ENSP00000247933.4:p.Tyr76Cys
ENST00000247933.9:c.227A>G (IDUA)	ENSP00000247933.4:p.Tyr76Cys
ENST00000361661.6:c.*956T>C (SLC26A1)	ENSP00000354721.2:n.*956T>C
ENST00000398520.6:c.576+3251T>C (SLC26A1)	ENSP00000381532.2:n.576+3251T>C
ENST00000502910.5:c.158+635A>G (IDUA)	ENSP00000422952.1:n.158+635A>G
ENST00000504568.5:c.225A>G (IDUA)
ENST00000506561.5:n.236A>G (IDUA)
ENST00000508168.5:n.177+635A>G (IDUA)
ENST00000514698.5:n.199+635A>G (IDUA)
ENST00000622731.4:c.576+3251T>C (SLC26A1)	ENSP00000483506.1:n.576+3251T>C
XM_006713856.2:c.*956T>C (SLC26A1)	XP_006713919.1:n.*956T>C
XM_011513459.1:c.158+635A>G (IDUA)	XP_011511761.1:n.158+635A>G
XM_011513460.1:c.158+635A>G (IDUA)	XP_011511762.1:n.158+635A>G
XM_011513462.1:c.-887A>G (IDUA)	XP_011511764.1:n.-887A>G
XM_017008163.1:c.-1240A>G (IDUA)	XP_016863652.1:n.-1240A>G
XR_924947.1:n.296A>G (IDUA)