Canonical Allele Identifier: CA2801138

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs765763734
• ExAC: 4:981652 C / T
• gnomAD v2: 4-981652-C-T
• gnomAD v4: 4-987864-C-T
• MyVariant Identifiers: chr4:g.981652C>T (hg19) ; chr4:g.987864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987864C>T , CM000666.2:g.987864C>T	GRCh38
NC_000004.11:g.981652C>T , CM000666.1:g.981652C>T	GRCh37
NC_000004.10:g.971652C>T	NCBI36
NG_008103.1:g.5868C>T
NG_033042.1:g.10573G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.214C>T (IDUA)	ENSP00000247933.4:p.Leu72Phe
ENST00000398516.3:c.*969G>A (SLC26A1) MANE Select	ENSP00000381528.2:n.*969G>A
ENST00000514224.2:c.214C>T (IDUA) MANE Select	ENSP00000425081.2:p.Leu72Phe
ENST00000247933.8:c.214C>T (IDUA)	ENSP00000247933.4:p.Leu72Phe
ENST00000361661.6:c.*969G>A (SLC26A1)	ENSP00000354721.2:n.*969G>A
ENST00000398520.6:c.576+3264G>A (SLC26A1)	ENSP00000381532.2:n.576+3264G>A
ENST00000502910.5:c.158+622C>T (IDUA)	ENSP00000422952.1:n.158+622C>T
ENST00000504568.5:c.212C>T (IDUA)
ENST00000506561.5:n.223C>T (IDUA)
ENST00000508168.5:n.177+622C>T (IDUA)
ENST00000514698.5:n.199+622C>T (IDUA)
ENST00000622731.4:c.576+3264G>A (SLC26A1)	ENSP00000483506.1:n.576+3264G>A
NM_000203.4:c.214C>T (IDUA)	NP_000194.2:p.Leu72Phe
NM_022042.3:c.*969G>A (SLC26A1)	NP_071325.2:n.*969G>A
NM_134425.2:c.576+3264G>A (SLC26A1)	NP_602297.1:n.576+3264G>A
NM_213613.3:c.*969G>A (SLC26A1)	NP_998778.1:n.*969G>A
NR_110313.1:n.302C>T (IDUA)
XM_006713856.2:c.*969G>A (SLC26A1)	XP_006713919.1:n.*969G>A
XM_011513459.1:c.158+622C>T (IDUA)	XP_011511761.1:n.158+622C>T
XM_011513460.1:c.158+622C>T (IDUA)	XP_011511762.1:n.158+622C>T
XR_924947.1:n.283C>T (IDUA)
NM_000203.5:c.214C>T (IDUA) MANE Select	NP_000194.2:p.Leu72Phe
XM_017008163.1:c.-1253C>T (IDUA)	XP_016863652.1:n.-1253C>T
NM_022042.4:c.*969G>A (SLC26A1) MANE Select	NP_071325.2:n.*969G>A
NM_134425.3:c.576+3264G>A (SLC26A1)	NP_602297.1:n.576+3264G>A
NM_213613.4:c.*969G>A (SLC26A1)	NP_998778.1:n.*969G>A
NM_134425.4:c.576+3264G>A (SLC26A1)	NP_602297.1:n.576+3264G>A