Canonical Allele Identifier: CA216459

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 64588
• ClinVar RCV Id: RCV000054775 ; RCV002496732 ; RCV003952478
• dbSNP Id: rs146466185
• ExAC: 4:982821 C / A
• gnomAD v2: 4-982821-C-A
• gnomAD v3: 4-989033-C-A
• gnomAD v4: 4-989033-C-A
• MyVariant Identifiers: chr4:g.982821C>A (hg19) ; chr4:g.989033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.989033C>A , CM000666.2:g.989033C>A	GRCh38
NC_000004.11:g.982821C>A , CM000666.1:g.982821C>A	GRCh37
NC_000004.10:g.972821C>A	NCBI36
NG_008103.1:g.7037C>A
NG_033042.1:g.9404G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.299+1084C>A (IDUA)	ENSP00000247933.4:n.299+1084C>A
ENST00000398516.3:c.1906G>T (SLC26A1) MANE Select	ENSP00000381528.2:p.Asp636Tyr
ENST00000514224.2:c.299+1084C>A (IDUA) MANE Select	ENSP00000425081.2:n.299+1084C>A
ENST00000247933.8:c.299+1084C>A (IDUA)	ENSP00000247933.4:n.299+1084C>A
ENST00000361661.6:c.1906G>T (SLC26A1)	ENSP00000354721.2:p.Asp636Tyr
ENST00000398516.2:c.1906G>T (SLC26A1)	ENSP00000381528.2:p.Asp636Tyr
ENST00000398520.6:c.576+2095G>T (SLC26A1)	ENSP00000381532.2:n.576+2095G>T
ENST00000502910.5:c.158+1791C>A (IDUA)	ENSP00000422952.1:n.158+1791C>A
ENST00000504568.5:c.259+1122C>A (IDUA)
ENST00000506561.5:n.308+1084C>A (IDUA)
ENST00000508168.5:n.177+1791C>A (IDUA)
ENST00000509744.1:n.36-198C>A (IDUA)
ENST00000514698.5:n.199+1791C>A (IDUA)
ENST00000622731.4:c.576+2095G>T (SLC26A1)	ENSP00000483506.1:n.576+2095G>T
NM_000203.4:c.299+1084C>A (IDUA)	NP_000194.2:n.299+1084C>A
NM_022042.3:c.1906G>T (SLC26A1)	NP_071325.2:p.Asp636Tyr
NM_134425.2:c.576+2095G>T (SLC26A1)	NP_602297.1:n.576+2095G>T
NM_213613.3:c.1906G>T (SLC26A1)	NP_998778.1:p.Asp636Tyr
NR_110313.1:n.387+1084C>A (IDUA)
XM_006713856.2:c.1906G>T (SLC26A1)	XP_006713919.1:p.Asp636Tyr
XM_011513459.1:c.158+1791C>A (IDUA)	XP_011511761.1:n.158+1791C>A
XM_011513460.1:c.158+1791C>A (IDUA)	XP_011511762.1:n.158+1791C>A
XM_011513462.1:c.-815+1084C>A (IDUA)	XP_011511764.1:n.-815+1084C>A
XR_924947.1:n.368+1084C>A (IDUA)
NM_000203.5:c.299+1084C>A (IDUA) MANE Select	NP_000194.2:n.299+1084C>A
XM_017008163.1:c.-1168+1084C>A (IDUA)	XP_016863652.1:n.-1168+1084C>A
NM_022042.4:c.1906G>T (SLC26A1) MANE Select	NP_071325.2:p.Asp636Tyr
NM_134425.3:c.576+2095G>T (SLC26A1)	NP_602297.1:n.576+2095G>T
NM_213613.4:c.1906G>T (SLC26A1)	NP_998778.1:p.Asp636Tyr
NM_134425.4:c.576+2095G>T (SLC26A1)	NP_602297.1:n.576+2095G>T