Canonical Allele Identifier: CA2801143

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 762045
• ClinVar RCV Id: RCV000940147
• dbSNP Id: rs769676234
• ExAC: 4:981675 C / T
• gnomAD v2: 4-981675-C-T
• gnomAD v3: 4-987887-C-T
• gnomAD v4: 4-987887-C-T
• MyVariant Identifiers: chr4:g.981675C>T (hg19) ; chr4:g.987887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987887C>T , CM000666.2:g.987887C>T	GRCh38
NC_000004.11:g.981675C>T , CM000666.1:g.981675C>T	GRCh37
NC_000004.10:g.971675C>T	NCBI36
NG_008103.1:g.5891C>T
NG_033042.1:g.10550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.237C>T (IDUA)	ENSP00000247933.4:p.Ala79=
ENST00000398516.3:c.*946G>A (SLC26A1) MANE Select	ENSP00000381528.2:n.*946G>A
ENST00000514224.2:c.237C>T (IDUA) MANE Select	ENSP00000425081.2:p.Ala79=
ENST00000247933.8:c.237C>T (IDUA)	ENSP00000247933.4:p.Ala79=
ENST00000361661.6:c.*946G>A (SLC26A1)	ENSP00000354721.2:n.*946G>A
ENST00000398520.6:c.576+3241G>A (SLC26A1)	ENSP00000381532.2:n.576+3241G>A
ENST00000502910.5:c.158+645C>T (IDUA)	ENSP00000422952.1:n.158+645C>T
ENST00000504568.5:c.235C>T (IDUA)
ENST00000506561.5:n.246C>T (IDUA)
ENST00000508168.5:n.177+645C>T (IDUA)
ENST00000514698.5:n.199+645C>T (IDUA)
ENST00000622731.4:c.576+3241G>A (SLC26A1)	ENSP00000483506.1:n.576+3241G>A
NM_000203.4:c.237C>T (IDUA)	NP_000194.2:p.Ala79=
NM_022042.3:c.*946G>A (SLC26A1)	NP_071325.2:n.*946G>A
NM_134425.2:c.576+3241G>A (SLC26A1)	NP_602297.1:n.576+3241G>A
NM_213613.3:c.*946G>A (SLC26A1)	NP_998778.1:n.*946G>A
NR_110313.1:n.325C>T (IDUA)
XM_006713856.2:c.*946G>A (SLC26A1)	XP_006713919.1:n.*946G>A
XM_011513459.1:c.158+645C>T (IDUA)	XP_011511761.1:n.158+645C>T
XM_011513460.1:c.158+645C>T (IDUA)	XP_011511762.1:n.158+645C>T
XM_011513462.1:c.-877C>T (IDUA)	XP_011511764.1:n.-877C>T
XR_924947.1:n.306C>T (IDUA)
NM_000203.5:c.237C>T (IDUA) MANE Select	NP_000194.2:p.Ala79=
XM_017008163.1:c.-1230C>T (IDUA)	XP_016863652.1:n.-1230C>T
NM_022042.4:c.*946G>A (SLC26A1) MANE Select	NP_071325.2:n.*946G>A
NM_134425.3:c.576+3241G>A (SLC26A1)	NP_602297.1:n.576+3241G>A
NM_213613.4:c.*946G>A (SLC26A1)	NP_998778.1:n.*946G>A
NM_134425.4:c.576+3241G>A (SLC26A1)	NP_602297.1:n.576+3241G>A