Canonical Allele Identifier: CA2801756

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 242376
• ClinVar RCV Id: RCV000234845 ; RCV002487094
• dbSNP Id: rs142573758
• ExAC: 4:985326 C / T
• gnomAD v2: 4-985326-C-T
• gnomAD v3: 4-991538-C-T
• gnomAD v4: 4-991538-C-T
• MyVariant Identifiers: chr4:g.985326C>T (hg19) ; chr4:g.991538C>T (hg38)
• PubMed: PMID:27125215 ; PMID:27210743

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.991538C>T , CM000666.2:g.991538C>T	GRCh38
NC_000004.11:g.985326C>T , CM000666.1:g.985326C>T	GRCh37
NC_000004.10:g.975326C>T	NCBI36
NG_008103.1:g.9542C>T
NG_033042.1:g.6899G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.299+3589C>T (IDUA)	ENSP00000247933.4:n.299+3589C>T
ENST00000398516.3:c.166G>A (SLC26A1) MANE Select	ENSP00000381528.2:p.Ala56Thr
ENST00000514224.2:c.299+3589C>T (IDUA) MANE Select	ENSP00000425081.2:n.299+3589C>T
ENST00000247933.8:c.299+3589C>T (IDUA)	ENSP00000247933.4:n.299+3589C>T
ENST00000361661.6:c.166G>A (SLC26A1)	ENSP00000354721.2:p.Ala56Thr
ENST00000398516.2:c.166G>A (SLC26A1)	ENSP00000381528.2:p.Ala56Thr
ENST00000398520.6:c.166G>A (SLC26A1)	ENSP00000381532.2:p.Ala56Thr
ENST00000502910.5:c.158+4296C>T (IDUA)	ENSP00000422952.1:n.158+4296C>T
ENST00000504568.5:c.259+3627C>T (IDUA)
ENST00000506561.5:n.308+3589C>T (IDUA)
ENST00000508168.5:n.177+4296C>T (IDUA)
ENST00000514698.5:n.199+4296C>T (IDUA)
ENST00000622731.4:c.166G>A (SLC26A1)	ENSP00000483506.1:p.Ala56Thr
NM_000203.4:c.299+3589C>T (IDUA)	NP_000194.2:n.299+3589C>T
NM_022042.3:c.166G>A (SLC26A1)	NP_071325.2:p.Ala56Thr
NM_134425.2:c.166G>A (SLC26A1)	NP_602297.1:p.Ala56Thr
NM_213613.3:c.166G>A (SLC26A1)	NP_998778.1:p.Ala56Thr
NR_110313.1:n.387+3589C>T (IDUA)
XM_006713856.2:c.166G>A (SLC26A1)	XP_006713919.1:p.Ala56Thr
XM_011513459.1:c.158+4296C>T (IDUA)	XP_011511761.1:n.158+4296C>T
XM_011513460.1:c.158+4296C>T (IDUA)	XP_011511762.1:n.158+4296C>T
XM_011513462.1:c.-815+3589C>T (IDUA)	XP_011511764.1:n.-815+3589C>T
XR_924947.1:n.368+3589C>T (IDUA)
NM_000203.5:c.299+3589C>T (IDUA) MANE Select	NP_000194.2:n.299+3589C>T
XM_017008163.1:c.-1168+3589C>T (IDUA)	XP_016863652.1:n.-1168+3589C>T
NM_022042.4:c.166G>A (SLC26A1) MANE Select	NP_071325.2:p.Ala56Thr
NM_134425.3:c.166G>A (SLC26A1)	NP_602297.1:p.Ala56Thr
NM_213613.4:c.166G>A (SLC26A1)	NP_998778.1:p.Ala56Thr
NM_134425.4:c.166G>A (SLC26A1)	NP_602297.1:p.Ala56Thr