Canonical Allele Identifier: CA2669476310

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-988064-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.988064C>G , CM000666.2:g.988064C>G	GRCh38
NC_000004.11:g.981852C>G , CM000666.1:g.981852C>G	GRCh37
NC_000004.10:g.971852C>G	NCBI36
NG_008103.1:g.6068C>G
NG_033042.1:g.10373G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.299+115C>G (IDUA)	ENSP00000247933.4:n.299+115C>G
ENST00000398516.3:c.*769G>C (SLC26A1) MANE Select	ENSP00000381528.2:n.*769G>C
ENST00000514224.2:c.299+115C>G (IDUA) MANE Select	ENSP00000425081.2:n.299+115C>G
ENST00000247933.8:c.299+115C>G (IDUA)	ENSP00000247933.4:n.299+115C>G
ENST00000361661.6:c.*769G>C (SLC26A1)	ENSP00000354721.2:n.*769G>C
ENST00000398516.2:c.*769G>C (SLC26A1)	ENSP00000381528.2:n.*769G>C
ENST00000398520.6:c.576+3064G>C (SLC26A1)	ENSP00000381532.2:n.576+3064G>C
ENST00000502910.5:c.158+822C>G (IDUA)	ENSP00000422952.1:n.158+822C>G
ENST00000504568.5:c.259+153C>G (IDUA)
ENST00000506561.5:n.308+115C>G (IDUA)
ENST00000508168.5:n.177+822C>G (IDUA)
ENST00000509744.1:n.35+115C>G (IDUA)
ENST00000514698.5:n.199+822C>G (IDUA)
ENST00000622731.4:c.576+3064G>C (SLC26A1)	ENSP00000483506.1:n.576+3064G>C
NM_000203.4:c.299+115C>G (IDUA)	NP_000194.2:n.299+115C>G
NM_022042.3:c.*769G>C (SLC26A1)	NP_071325.2:n.*769G>C
NM_134425.2:c.576+3064G>C (SLC26A1)	NP_602297.1:n.576+3064G>C
NM_213613.3:c.*769G>C (SLC26A1)	NP_998778.1:n.*769G>C
NR_110313.1:n.387+115C>G (IDUA)
XM_006713856.2:c.*769G>C (SLC26A1)	XP_006713919.1:n.*769G>C
XM_011513459.1:c.158+822C>G (IDUA)	XP_011511761.1:n.158+822C>G
XM_011513460.1:c.158+822C>G (IDUA)	XP_011511762.1:n.158+822C>G
XM_011513462.1:c.-815+115C>G (IDUA)	XP_011511764.1:n.-815+115C>G
XR_924947.1:n.368+115C>G (IDUA)
NM_000203.5:c.299+115C>G (IDUA) MANE Select	NP_000194.2:n.299+115C>G
XM_017008163.1:c.-1168+115C>G (IDUA)	XP_016863652.1:n.-1168+115C>G
NM_022042.4:c.*769G>C (SLC26A1) MANE Select	NP_071325.2:n.*769G>C
NM_134425.3:c.576+3064G>C (SLC26A1)	NP_602297.1:n.576+3064G>C
NM_213613.4:c.*769G>C (SLC26A1)	NP_998778.1:n.*769G>C
NM_134425.4:c.576+3064G>C (SLC26A1)	NP_602297.1:n.576+3064G>C