Canonical Allele Identifier: CA2802456

Gene: IDUA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004286C>A , CM000666.2:g.1004286C>A	GRCh38
NC_000004.11:g.998074C>A , CM000666.1:g.998074C>A	GRCh37
NC_000004.10:g.988074C>A	NCBI36
NG_008103.1:g.22290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1855C>A	ENSP00000247933.4:p.Arg619=
ENST00000514224.2:c.1855C>A MANE Select	ENSP00000425081.2:p.Arg619=
ENST00000652070.1:n.1911C>A
ENST00000247933.8:c.1855C>A	ENSP00000247933.4:p.Arg619=
ENST00000514224.1:c.1459C>A	ENSP00000425081.1:p.Arg487=
ENST00000514698.5:n.1966C>A
NM_000203.4:c.1855C>A	NP_000194.2:p.Arg619=
NR_110313.1:n.1947C>A
XM_006713882.2:c.1459C>A	XP_006713945.1:p.Arg487=
XM_011513459.1:c.1921C>A	XP_011511761.1:p.Arg641=
XM_011513460.1:c.1714C>A	XP_011511762.1:p.Arg572=
XM_011513461.1:c.1648C>A	XP_011511763.1:p.Arg550=
XM_011513462.1:c.1567C>A	XP_011511764.1:p.Arg523=
XM_011513463.1:c.1567C>A	XP_011511765.1:p.Arg523=
XR_924947.1:n.2115C>A
NM_000203.5:c.1855C>A MANE Select	NP_000194.2:p.Arg619=
NM_001363576.1:c.1459C>A	NP_001350505.1:p.Arg487=
XM_011513461.2:c.1648C>A	XP_011511763.1:p.Arg550=
XM_017008163.1:c.895C>A	XP_016863652.1:p.Arg299=