Canonical Allele Identifier: CA437912764

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987890-C-A
• MyVariant Identifiers: chr4:g.981678C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987890C>A , CM000666.2:g.987890C>A	GRCh38
NC_000004.11:g.981678C>A , CM000666.1:g.981678C>A	GRCh37
NC_000004.10:g.971678C>A	NCBI36
NG_008103.1:g.5894C>A
NG_033042.1:g.10547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.240C>A (IDUA)	ENSP00000247933.4:p.Val80=
ENST00000398516.3:c.*943G>T (SLC26A1) MANE Select	ENSP00000381528.2:n.*943G>T
ENST00000514224.2:c.240C>A (IDUA) MANE Select	ENSP00000425081.2:p.Val80=
ENST00000247933.8:c.240C>A (IDUA)	ENSP00000247933.4:p.Val80=
ENST00000361661.6:c.*943G>T (SLC26A1)	ENSP00000354721.2:n.*943G>T
ENST00000398520.6:c.576+3238G>T (SLC26A1)	ENSP00000381532.2:n.576+3238G>T
ENST00000502910.5:c.158+648C>A (IDUA)	ENSP00000422952.1:n.158+648C>A
ENST00000504568.5:c.238C>A (IDUA)
ENST00000506561.5:n.249C>A (IDUA)
ENST00000508168.5:n.177+648C>A (IDUA)
ENST00000514698.5:n.199+648C>A (IDUA)
ENST00000622731.4:c.576+3238G>T (SLC26A1)	ENSP00000483506.1:n.576+3238G>T
NM_000203.4:c.240C>A (IDUA)	NP_000194.2:p.Val80=
NM_022042.3:c.*943G>T (SLC26A1)	NP_071325.2:n.*943G>T
NM_134425.2:c.576+3238G>T (SLC26A1)	NP_602297.1:n.576+3238G>T
NM_213613.3:c.*943G>T (SLC26A1)	NP_998778.1:n.*943G>T
NR_110313.1:n.328C>A (IDUA)
XM_006713856.2:c.*943G>T (SLC26A1)	XP_006713919.1:n.*943G>T
XM_011513459.1:c.158+648C>A (IDUA)	XP_011511761.1:n.158+648C>A
XM_011513460.1:c.158+648C>A (IDUA)	XP_011511762.1:n.158+648C>A
XM_011513462.1:c.-874C>A (IDUA)	XP_011511764.1:n.-874C>A
XR_924947.1:n.309C>A (IDUA)
NM_000203.5:c.240C>A (IDUA) MANE Select	NP_000194.2:p.Val80=
XM_017008163.1:c.-1227C>A (IDUA)	XP_016863652.1:n.-1227C>A
NM_022042.4:c.*943G>T (SLC26A1) MANE Select	NP_071325.2:n.*943G>T
NM_134425.3:c.576+3238G>T (SLC26A1)	NP_602297.1:n.576+3238G>T
NM_213613.4:c.*943G>T (SLC26A1)	NP_998778.1:n.*943G>T
NM_134425.4:c.576+3238G>T (SLC26A1)	NP_602297.1:n.576+3238G>T