Canonical Allele Identifier: CA2802271

Gene: IDUA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003112C>A , CM000666.2:g.1003112C>A	GRCh38
NC_000004.11:g.996900C>A , CM000666.1:g.996900C>A	GRCh37
NC_000004.10:g.986900C>A	NCBI36
NG_008103.1:g.21116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1479C>A	ENSP00000247933.4:p.Pro493=
ENST00000514224.2:c.1479C>A MANE Select	ENSP00000425081.2:p.Pro493=
ENST00000652070.1:n.1535C>A
ENST00000247933.8:c.1479C>A	ENSP00000247933.4:p.Pro493=
ENST00000502829.1:n.281C>A
ENST00000514224.1:c.1083C>A	ENSP00000425081.1:p.Pro361=
ENST00000514698.5:n.1586C>A
NM_000203.4:c.1479C>A	NP_000194.2:p.Pro493=
NR_110313.1:n.1567C>A
XM_006713882.2:c.1083C>A	XP_006713945.1:p.Pro361=
XM_011513459.1:c.1545C>A	XP_011511761.1:p.Pro515=
XM_011513460.1:c.1338C>A	XP_011511762.1:p.Pro446=
XM_011513461.1:c.1272C>A	XP_011511763.1:p.Pro424=
XM_011513462.1:c.1191C>A	XP_011511764.1:p.Pro397=
XM_011513463.1:c.1191C>A	XP_011511765.1:p.Pro397=
XR_924947.1:n.1548C>A
NM_000203.5:c.1479C>A MANE Select	NP_000194.2:p.Pro493=
NM_001363576.1:c.1083C>A	NP_001350505.1:p.Pro361=
XM_011513461.2:c.1272C>A	XP_011511763.1:p.Pro424=
XM_017008163.1:c.519C>A	XP_016863652.1:p.Pro173=