Canonical Allele Identifier: CA437911496

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987123C>T , CM000666.2:g.987123C>T	GRCh38
NC_000004.11:g.980911C>T , CM000666.1:g.980911C>T	GRCh37
NC_000004.10:g.970911C>T	NCBI36
NG_008103.1:g.5127C>T
NG_033042.1:g.11314G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.39C>T (IDUA) MANE Select	NP_000194.2:p.Leu13=
ENST00000514224.2:c.39C>T (IDUA) MANE Select	ENSP00000425081.2:p.Leu13=
NM_000203.4:c.39C>T (IDUA)	NP_000194.2:p.Leu13=
NM_134425.2:c.576+4005G>A (SLC26A1)	NP_602297.1:n.576+4005G>A
NM_134425.3:c.576+4005G>A (SLC26A1)	NP_602297.1:n.576+4005G>A
NM_134425.4:c.576+4005G>A (SLC26A1)	NP_602297.1:n.576+4005G>A
NR_110313.1:n.127C>T (IDUA)
ENST00000247933.8:c.39C>T (IDUA)	ENSP00000247933.4:p.Leu13=
ENST00000247933.9:c.39C>T (IDUA)	ENSP00000247933.4:p.Leu13=
ENST00000398520.6:c.576+4005G>A (SLC26A1)	ENSP00000381532.2:n.576+4005G>A
ENST00000502910.5:c.39C>T (IDUA)	ENSP00000422952.1:p.Leu13=
ENST00000504568.5:c.37C>T (IDUA)
ENST00000506561.5:n.48C>T (IDUA)
ENST00000508168.5:n.58C>T (IDUA)
ENST00000514698.5:n.80C>T (IDUA)
ENST00000622731.4:c.576+4005G>A (SLC26A1)	ENSP00000483506.1:n.576+4005G>A
XM_011513459.1:c.39C>T (IDUA)	XP_011511761.1:p.Leu13=
XM_011513460.1:c.39C>T (IDUA)	XP_011511762.1:p.Leu13=
XM_017008163.1:c.-1428C>T (IDUA)	XP_016863652.1:n.-1428C>T
XR_924947.1:n.108C>T (IDUA)