Canonical Allele Identifier: CA91144614

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987090T>C , CM000666.2:g.987090T>C	GRCh38
NC_000004.11:g.980878T>C , CM000666.1:g.980878T>C	GRCh37
NC_000004.10:g.970878T>C	NCBI36
NG_008103.1:g.5094T>C
NG_033042.1:g.11347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.6T>C (IDUA)	ENSP00000247933.4:p.Arg2=
ENST00000514224.2:c.6T>C (IDUA) MANE Select	ENSP00000425081.2:p.Arg2=
ENST00000247933.8:c.6T>C (IDUA)	ENSP00000247933.4:p.Arg2=
ENST00000398520.6:c.576+4038A>G (SLC26A1)	ENSP00000381532.2:n.576+4038A>G
ENST00000502910.5:c.6T>C (IDUA)	ENSP00000422952.1:p.Arg2=
ENST00000504568.5:c.4T>C (IDUA)
ENST00000506561.5:n.15T>C (IDUA)
ENST00000508168.5:n.25T>C (IDUA)
ENST00000514698.5:n.47T>C (IDUA)
ENST00000622731.4:c.576+4038A>G (SLC26A1)	ENSP00000483506.1:n.576+4038A>G
NM_000203.4:c.6T>C (IDUA)	NP_000194.2:p.Arg2=
NM_134425.2:c.576+4038A>G (SLC26A1)	NP_602297.1:n.576+4038A>G
NR_110313.1:n.94T>C (IDUA)
XM_011513459.1:c.6T>C (IDUA)	XP_011511761.1:p.Arg2=
XM_011513460.1:c.6T>C (IDUA)	XP_011511762.1:p.Arg2=
XR_924947.1:n.75T>C (IDUA)
NM_000203.5:c.6T>C (IDUA) MANE Select	NP_000194.2:p.Arg2=
XM_017008163.1:c.-1461T>C (IDUA)	XP_016863652.1:n.-1461T>C
NM_134425.3:c.576+4038A>G (SLC26A1)	NP_602297.1:n.576+4038A>G
NM_134425.4:c.576+4038A>G (SLC26A1)	NP_602297.1:n.576+4038A>G