Canonical Allele Identifier: CA355945559

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987206G>A , CM000666.2:g.987206G>A	GRCh38
NC_000004.11:g.980994G>A , CM000666.1:g.980994G>A	GRCh37
NC_000004.10:g.970994G>A	NCBI36
NG_008103.1:g.5210G>A
NG_033042.1:g.11231C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.122G>A (IDUA) MANE Select	NP_000194.2:p.Trp41Ter
ENST00000514224.2:c.122G>A (IDUA) MANE Select	ENSP00000425081.2:p.Trp41Ter
NM_000203.4:c.122G>A (IDUA)	NP_000194.2:p.Trp41Ter
NM_134425.2:c.576+3922C>T (SLC26A1)	NP_602297.1:n.576+3922C>T
NM_134425.3:c.576+3922C>T (SLC26A1)	NP_602297.1:n.576+3922C>T
NM_134425.4:c.576+3922C>T (SLC26A1)	NP_602297.1:n.576+3922C>T
NR_110313.1:n.210G>A (IDUA)
ENST00000247933.8:c.122G>A (IDUA)	ENSP00000247933.4:p.Trp41Ter
ENST00000247933.9:c.122G>A (IDUA)	ENSP00000247933.4:p.Trp41Ter
ENST00000398520.6:c.576+3922C>T (SLC26A1)	ENSP00000381532.2:n.576+3922C>T
ENST00000502910.5:c.122G>A (IDUA)	ENSP00000422952.1:p.Trp41Ter
ENST00000504568.5:c.120G>A (IDUA)
ENST00000506561.5:n.131G>A (IDUA)
ENST00000508168.5:n.141G>A (IDUA)
ENST00000514698.5:n.163G>A (IDUA)
ENST00000622731.4:c.576+3922C>T (SLC26A1)	ENSP00000483506.1:n.576+3922C>T
XM_011513459.1:c.122G>A (IDUA)	XP_011511761.1:p.Trp41Ter
XM_011513460.1:c.122G>A (IDUA)	XP_011511762.1:p.Trp41Ter
XM_017008163.1:c.-1345G>A (IDUA)	XP_016863652.1:n.-1345G>A
XR_924947.1:n.191G>A (IDUA)