Canonical Allele Identifier: CA437912915

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 1148099
• ClinVar RCV Id: RCV001487828
• dbSNP Id: rs2153015687
• gnomAD v4: 4-987917-G-A
• MyVariant Identifiers: chr4:g.981705G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987917G>A , CM000666.2:g.987917G>A	GRCh38
NC_000004.11:g.981705G>A , CM000666.1:g.981705G>A	GRCh37
NC_000004.10:g.971705G>A	NCBI36
NG_008103.1:g.5921G>A
NG_033042.1:g.10520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.267G>A (IDUA)	ENSP00000247933.4:p.Arg89=
ENST00000398516.3:c.*916C>T (SLC26A1) MANE Select	ENSP00000381528.2:n.*916C>T
ENST00000514224.2:c.267G>A (IDUA) MANE Select	ENSP00000425081.2:p.Arg89=
ENST00000247933.8:c.267G>A (IDUA)	ENSP00000247933.4:p.Arg89=
ENST00000361661.6:c.*916C>T (SLC26A1)	ENSP00000354721.2:n.*916C>T
ENST00000398520.6:c.576+3211C>T (SLC26A1)	ENSP00000381532.2:n.576+3211C>T
ENST00000502910.5:c.158+675G>A (IDUA)	ENSP00000422952.1:n.158+675G>A
ENST00000504568.5:c.259+6G>A (IDUA)
ENST00000506561.5:n.276G>A (IDUA)
ENST00000508168.5:n.177+675G>A (IDUA)
ENST00000509744.1:n.3G>A (IDUA)
ENST00000514698.5:n.199+675G>A (IDUA)
ENST00000622731.4:c.576+3211C>T (SLC26A1)	ENSP00000483506.1:n.576+3211C>T
NM_000203.4:c.267G>A (IDUA)	NP_000194.2:p.Arg89=
NM_022042.3:c.*916C>T (SLC26A1)	NP_071325.2:n.*916C>T
NM_134425.2:c.576+3211C>T (SLC26A1)	NP_602297.1:n.576+3211C>T
NM_213613.3:c.*916C>T (SLC26A1)	NP_998778.1:n.*916C>T
NR_110313.1:n.355G>A (IDUA)
XM_006713856.2:c.*916C>T (SLC26A1)	XP_006713919.1:n.*916C>T
XM_011513459.1:c.158+675G>A (IDUA)	XP_011511761.1:n.158+675G>A
XM_011513460.1:c.158+675G>A (IDUA)	XP_011511762.1:n.158+675G>A
XM_011513462.1:c.-847G>A (IDUA)	XP_011511764.1:n.-847G>A
XR_924947.1:n.336G>A (IDUA)
NM_000203.5:c.267G>A (IDUA) MANE Select	NP_000194.2:p.Arg89=
XM_017008163.1:c.-1200G>A (IDUA)	XP_016863652.1:n.-1200G>A
NM_022042.4:c.*916C>T (SLC26A1) MANE Select	NP_071325.2:n.*916C>T
NM_134425.3:c.576+3211C>T (SLC26A1)	NP_602297.1:n.576+3211C>T
NM_213613.4:c.*916C>T (SLC26A1)	NP_998778.1:n.*916C>T
NM_134425.4:c.576+3211C>T (SLC26A1)	NP_602297.1:n.576+3211C>T