Canonical Allele Identifier: CA800604019

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs1401998052
• gnomAD v3: 4-987466-C-T
• gnomAD v4: 4-987466-C-T
• MyVariant Identifiers: chr4:g.981254C>T (hg19) ; chr4:g.987466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987466C>T , CM000666.2:g.987466C>T	GRCh38
NC_000004.11:g.981254C>T , CM000666.1:g.981254C>T	GRCh37
NC_000004.10:g.971254C>T	NCBI36
NG_008103.1:g.5470C>T
NG_033042.1:g.10971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+224C>T (IDUA)	ENSP00000247933.4:n.158+224C>T
ENST00000514224.2:c.158+224C>T (IDUA) MANE Select	ENSP00000425081.2:n.158+224C>T
ENST00000247933.8:c.158+224C>T (IDUA)	ENSP00000247933.4:n.158+224C>T
ENST00000398520.6:c.576+3662G>A (SLC26A1)	ENSP00000381532.2:n.576+3662G>A
ENST00000502910.5:c.158+224C>T (IDUA)	ENSP00000422952.1:n.158+224C>T
ENST00000504568.5:c.156+224C>T (IDUA)
ENST00000506561.5:n.167+224C>T (IDUA)
ENST00000508168.5:n.177+224C>T (IDUA)
ENST00000514698.5:n.199+224C>T (IDUA)
ENST00000622731.4:c.576+3662G>A (SLC26A1)	ENSP00000483506.1:n.576+3662G>A
NM_000203.4:c.158+224C>T (IDUA)	NP_000194.2:n.158+224C>T
NM_134425.2:c.576+3662G>A (SLC26A1)	NP_602297.1:n.576+3662G>A
NR_110313.1:n.246+224C>T (IDUA)
XM_011513459.1:c.158+224C>T (IDUA)	XP_011511761.1:n.158+224C>T
XM_011513460.1:c.158+224C>T (IDUA)	XP_011511762.1:n.158+224C>T
XR_924947.1:n.227+224C>T (IDUA)
NM_000203.5:c.158+224C>T (IDUA) MANE Select	NP_000194.2:n.158+224C>T
XM_017008163.1:c.-1309+224C>T (IDUA)	XP_016863652.1:n.-1309+224C>T
NM_134425.3:c.576+3662G>A (SLC26A1)	NP_602297.1:n.576+3662G>A
NM_134425.4:c.576+3662G>A (SLC26A1)	NP_602297.1:n.576+3662G>A