Canonical Allele Identifier: CA438058018

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997354C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003566C>T , CM000666.2:g.1003566C>T	GRCh38
NC_000004.11:g.997354C>T , CM000666.1:g.997354C>T	GRCh37
NC_000004.10:g.987354C>T	NCBI36
NG_008103.1:g.21570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1668C>T	ENSP00000247933.4:p.Ala556=
ENST00000514224.2:c.1668C>T MANE Select	ENSP00000425081.2:p.Ala556=
ENST00000652070.1:n.1724C>T
ENST00000247933.8:c.1668C>T	ENSP00000247933.4:p.Ala556=
ENST00000514224.1:c.1272C>T	ENSP00000425081.1:p.Ala424=
ENST00000514417.1:n.60C>T
ENST00000514698.5:n.1775C>T
NM_000203.4:c.1668C>T	NP_000194.2:p.Ala556=
NR_110313.1:n.1756C>T
XM_006713882.2:c.1272C>T	XP_006713945.1:p.Ala424=
XM_011513459.1:c.1734C>T	XP_011511761.1:p.Ala578=
XM_011513460.1:c.1527C>T	XP_011511762.1:p.Ala509=
XM_011513461.1:c.1461C>T	XP_011511763.1:p.Ala487=
XM_011513462.1:c.1380C>T	XP_011511764.1:p.Ala460=
XM_011513463.1:c.1380C>T	XP_011511765.1:p.Ala460=
XR_924947.1:n.1924C>T
NM_000203.5:c.1668C>T MANE Select	NP_000194.2:p.Ala556=
NM_001363576.1:c.1272C>T	NP_001350505.1:p.Ala424=
XM_011513461.2:c.1461C>T	XP_011511763.1:p.Ala487=
XM_017008163.1:c.708C>T	XP_016863652.1:p.Ala236=