Canonical Allele Identifier: CA2801095

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987086T>C , CM000666.2:g.987086T>C	GRCh38
NC_000004.11:g.980874T>C , CM000666.1:g.980874T>C	GRCh37
NC_000004.10:g.970874T>C	NCBI36
NG_008103.1:g.5090T>C
NG_033042.1:g.11351A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.2T>C (IDUA) MANE Select	NP_000194.2:p.Met1Thr
ENST00000514224.2:c.2T>C (IDUA) MANE Select	ENSP00000425081.2:p.Met1Thr
NM_000203.4:c.2T>C (IDUA)	NP_000194.2:p.Met1Thr
NM_134425.2:c.576+4042A>G (SLC26A1)	NP_602297.1:n.576+4042A>G
NM_134425.3:c.576+4042A>G (SLC26A1)	NP_602297.1:n.576+4042A>G
NM_134425.4:c.576+4042A>G (SLC26A1)	NP_602297.1:n.576+4042A>G
NR_110313.1:n.90T>C (IDUA)
ENST00000247933.8:c.2T>C (IDUA)	ENSP00000247933.4:p.Met1Thr
ENST00000247933.9:c.2T>C (IDUA)	ENSP00000247933.4:p.Met1Thr
ENST00000398520.6:c.576+4042A>G (SLC26A1)	ENSP00000381532.2:n.576+4042A>G
ENST00000502910.5:c.2T>C (IDUA)	ENSP00000422952.1:p.Met1Thr
ENST00000506561.5:n.11T>C (IDUA)
ENST00000508168.5:n.21T>C (IDUA)
ENST00000514698.5:n.43T>C (IDUA)
ENST00000622731.4:c.576+4042A>G (SLC26A1)	ENSP00000483506.1:n.576+4042A>G
XM_011513459.1:c.2T>C (IDUA)	XP_011511761.1:p.Met1Thr
XM_011513460.1:c.2T>C (IDUA)	XP_011511762.1:p.Met1Thr
XM_017008163.1:c.-1465T>C (IDUA)	XP_016863652.1:n.-1465T>C
XR_924947.1:n.71T>C (IDUA)