Canonical Allele Identifier: CA2591038820

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs1393274247
• gnomAD v3: 4-987474-T-G
• gnomAD v4: 4-987474-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987474T>G , CM000666.2:g.987474T>G	GRCh38
NC_000004.11:g.981262T>G , CM000666.1:g.981262T>G	GRCh37
NC_000004.10:g.971262T>G	NCBI36
NG_008103.1:g.5478T>G
NG_033042.1:g.10963A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+232T>G (IDUA)	ENSP00000247933.4:n.158+232T>G
ENST00000514224.2:c.158+232T>G (IDUA) MANE Select	ENSP00000425081.2:n.158+232T>G
ENST00000247933.8:c.158+232T>G (IDUA)	ENSP00000247933.4:n.158+232T>G
ENST00000398520.6:c.576+3654A>C (SLC26A1)	ENSP00000381532.2:n.576+3654A>C
ENST00000502910.5:c.158+232T>G (IDUA)	ENSP00000422952.1:n.158+232T>G
ENST00000504568.5:c.156+232T>G (IDUA)
ENST00000506561.5:n.167+232T>G (IDUA)
ENST00000508168.5:n.177+232T>G (IDUA)
ENST00000514698.5:n.199+232T>G (IDUA)
ENST00000622731.4:c.576+3654A>C (SLC26A1)	ENSP00000483506.1:n.576+3654A>C
NM_000203.4:c.158+232T>G (IDUA)	NP_000194.2:n.158+232T>G
NM_134425.2:c.576+3654A>C (SLC26A1)	NP_602297.1:n.576+3654A>C
NR_110313.1:n.246+232T>G (IDUA)
XM_011513459.1:c.158+232T>G (IDUA)	XP_011511761.1:n.158+232T>G
XM_011513460.1:c.158+232T>G (IDUA)	XP_011511762.1:n.158+232T>G
XR_924947.1:n.227+232T>G (IDUA)
NM_000203.5:c.158+232T>G (IDUA) MANE Select	NP_000194.2:n.158+232T>G
XM_017008163.1:c.-1309+232T>G (IDUA)	XP_016863652.1:n.-1309+232T>G
NM_134425.3:c.576+3654A>C (SLC26A1)	NP_602297.1:n.576+3654A>C
NM_134425.4:c.576+3654A>C (SLC26A1)	NP_602297.1:n.576+3654A>C