Canonical Allele Identifier: CA1433052881

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.991150G= , CM000666.2:g.991150G=	GRCh38
NC_000004.11:g.984938G= , CM000666.1:g.984938G=	GRCh37
NC_000004.10:g.974938G=	NCBI36
NG_008103.1:g.9154G=
NG_033042.1:g.7287C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.299+3201G= (IDUA) MANE Select	NP_000194.2:n.299+3201G=
NM_022042.4:c.554C= (SLC26A1) MANE Select	NP_071325.2:p.Thr185=
ENST00000398516.3:c.554C= (SLC26A1) MANE Select	ENSP00000381528.2:p.Thr185=
ENST00000514224.2:c.299+3201G= (IDUA) MANE Select	ENSP00000425081.2:n.299+3201G=
NM_000203.4:c.299+3201G= (IDUA)	NP_000194.2:n.299+3201G=
NM_022042.3:c.554C= (SLC26A1)	NP_071325.2:p.Thr185=
NM_134425.2:c.554C= (SLC26A1)	NP_602297.1:p.Thr185=
NM_134425.3:c.554C= (SLC26A1)	NP_602297.1:p.Thr185=
NM_134425.4:c.554C= (SLC26A1)	NP_602297.1:p.Thr185=
NM_213613.3:c.554C= (SLC26A1)	NP_998778.1:p.Thr185=
NM_213613.4:c.554C= (SLC26A1)	NP_998778.1:p.Thr185=
NR_110313.1:n.387+3201G= (IDUA)
ENST00000247933.8:c.299+3201G= (IDUA)	ENSP00000247933.4:n.299+3201G=
ENST00000247933.9:c.299+3201G= (IDUA)	ENSP00000247933.4:n.299+3201G=
ENST00000361661.6:c.554C= (SLC26A1)	ENSP00000354721.2:p.Thr185=
ENST00000398516.2:c.554C= (SLC26A1)	ENSP00000381528.2:p.Thr185=
ENST00000398520.6:c.554C= (SLC26A1)	ENSP00000381532.2:p.Thr185=
ENST00000502910.5:c.158+3908G= (IDUA)	ENSP00000422952.1:n.158+3908G=
ENST00000504568.5:c.259+3239G= (IDUA)
ENST00000506561.5:n.308+3201G= (IDUA)
ENST00000508168.5:n.177+3908G= (IDUA)
ENST00000513138.1:n.46C= (SLC26A1)
ENST00000514698.5:n.199+3908G= (IDUA)
ENST00000622731.4:c.554C= (SLC26A1)	ENSP00000483506.1:p.Thr185=
XM_006713856.2:c.554C= (SLC26A1)	XP_006713919.1:p.Thr185=
XM_011513459.1:c.158+3908G= (IDUA)	XP_011511761.1:n.158+3908G=
XM_011513460.1:c.158+3908G= (IDUA)	XP_011511762.1:n.158+3908G=
XM_011513462.1:c.-815+3201G= (IDUA)	XP_011511764.1:n.-815+3201G=
XM_017008163.1:c.-1168+3201G= (IDUA)	XP_016863652.1:n.-1168+3201G=
XR_924947.1:n.368+3201G= (IDUA)