Canonical Allele Identifier: CA201510

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 195039
• ClinVar RCV Id: RCV000175552 ; RCV000664739 ; RCV000779453 ; RCV003129795
• dbSNP Id: rs794727239
• gnomAD v2: 4-981683-A-C
• gnomAD v3: 4-987895-A-C
• gnomAD v4: 4-987895-A-C
• MyVariant Identifiers: chr4:g.981683A>C (hg19) ; chr4:g.987895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987895A>C , CM000666.2:g.987895A>C	GRCh38
NC_000004.11:g.981683A>C , CM000666.1:g.981683A>C	GRCh37
NC_000004.10:g.971683A>C	NCBI36
NG_008103.1:g.5899A>C
NG_033042.1:g.10542T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.245A>C (IDUA)	ENSP00000247933.4:p.His82Pro
ENST00000398516.3:c.*938T>G (SLC26A1) MANE Select	ENSP00000381528.2:n.*938T>G
ENST00000514224.2:c.245A>C (IDUA) MANE Select	ENSP00000425081.2:p.His82Pro
ENST00000247933.8:c.245A>C (IDUA)	ENSP00000247933.4:p.His82Pro
ENST00000361661.6:c.*938T>G (SLC26A1)	ENSP00000354721.2:n.*938T>G
ENST00000398520.6:c.576+3233T>G (SLC26A1)	ENSP00000381532.2:n.576+3233T>G
ENST00000502910.5:c.158+653A>C (IDUA)	ENSP00000422952.1:n.158+653A>C
ENST00000504568.5:c.243A>C (IDUA)
ENST00000506561.5:n.254A>C (IDUA)
ENST00000508168.5:n.177+653A>C (IDUA)
ENST00000514698.5:n.199+653A>C (IDUA)
ENST00000622731.4:c.576+3233T>G (SLC26A1)	ENSP00000483506.1:n.576+3233T>G
NM_000203.4:c.245A>C (IDUA)	NP_000194.2:p.His82Pro
NM_022042.3:c.*938T>G (SLC26A1)	NP_071325.2:n.*938T>G
NM_134425.2:c.576+3233T>G (SLC26A1)	NP_602297.1:n.576+3233T>G
NM_213613.3:c.*938T>G (SLC26A1)	NP_998778.1:n.*938T>G
NR_110313.1:n.333A>C (IDUA)
XM_006713856.2:c.*938T>G (SLC26A1)	XP_006713919.1:n.*938T>G
XM_011513459.1:c.158+653A>C (IDUA)	XP_011511761.1:n.158+653A>C
XM_011513460.1:c.158+653A>C (IDUA)	XP_011511762.1:n.158+653A>C
XM_011513462.1:c.-869A>C (IDUA)	XP_011511764.1:n.-869A>C
XR_924947.1:n.314A>C (IDUA)
NM_000203.5:c.245A>C (IDUA) MANE Select	NP_000194.2:p.His82Pro
XM_017008163.1:c.-1222A>C (IDUA)	XP_016863652.1:n.-1222A>C
NM_022042.4:c.*938T>G (SLC26A1) MANE Select	NP_071325.2:n.*938T>G
NM_134425.3:c.576+3233T>G (SLC26A1)	NP_602297.1:n.576+3233T>G
NM_213613.4:c.*938T>G (SLC26A1)	NP_998778.1:n.*938T>G
NM_134425.4:c.576+3233T>G (SLC26A1)	NP_602297.1:n.576+3233T>G