Canonical Allele Identifier: CA2801100

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987114G>A , CM000666.2:g.987114G>A	GRCh38
NC_000004.11:g.980902G>A , CM000666.1:g.980902G>A	GRCh37
NC_000004.10:g.970902G>A	NCBI36
NG_008103.1:g.5118G>A
NG_033042.1:g.11323C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.30G>A (IDUA) MANE Select	NP_000194.2:p.Leu10=
ENST00000514224.2:c.30G>A (IDUA) MANE Select	ENSP00000425081.2:p.Leu10=
NM_000203.4:c.30G>A (IDUA)	NP_000194.2:p.Leu10=
NM_134425.2:c.576+4014C>T (SLC26A1)	NP_602297.1:n.576+4014C>T
NM_134425.3:c.576+4014C>T (SLC26A1)	NP_602297.1:n.576+4014C>T
NM_134425.4:c.576+4014C>T (SLC26A1)	NP_602297.1:n.576+4014C>T
NR_110313.1:n.118G>A (IDUA)
ENST00000247933.8:c.30G>A (IDUA)	ENSP00000247933.4:p.Leu10=
ENST00000247933.9:c.30G>A (IDUA)	ENSP00000247933.4:p.Leu10=
ENST00000398520.6:c.576+4014C>T (SLC26A1)	ENSP00000381532.2:n.576+4014C>T
ENST00000502910.5:c.30G>A (IDUA)	ENSP00000422952.1:p.Leu10=
ENST00000504568.5:c.28G>A (IDUA)
ENST00000506561.5:n.39G>A (IDUA)
ENST00000508168.5:n.49G>A (IDUA)
ENST00000514698.5:n.71G>A (IDUA)
ENST00000622731.4:c.576+4014C>T (SLC26A1)	ENSP00000483506.1:n.576+4014C>T
XM_011513459.1:c.30G>A (IDUA)	XP_011511761.1:p.Leu10=
XM_011513460.1:c.30G>A (IDUA)	XP_011511762.1:p.Leu10=
XM_017008163.1:c.-1437G>A (IDUA)	XP_016863652.1:n.-1437G>A
XR_924947.1:n.99G>A (IDUA)