Canonical Allele Identifier: CA355965117

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997247C>A (hg19) ; chr4:g.1003459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003459C>A , CM000666.2:g.1003459C>A	GRCh38
NC_000004.11:g.997247C>A , CM000666.1:g.997247C>A	GRCh37
NC_000004.10:g.987247C>A	NCBI36
NG_008103.1:g.21463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1639C>A	ENSP00000247933.4:p.Pro547Thr
ENST00000514224.2:c.1639C>A MANE Select	ENSP00000425081.2:p.Pro547Thr
ENST00000652070.1:n.1695C>A
ENST00000247933.8:c.1639C>A	ENSP00000247933.4:p.Pro547Thr
ENST00000514224.1:c.1243C>A	ENSP00000425081.1:p.Pro415Thr
ENST00000514417.1:n.31C>A
ENST00000514698.5:n.1746C>A
NM_000203.4:c.1639C>A	NP_000194.2:p.Pro547Thr
NR_110313.1:n.1727C>A
XM_006713882.2:c.1243C>A	XP_006713945.1:p.Pro415Thr
XM_011513459.1:c.1705C>A	XP_011511761.1:p.Pro569Thr
XM_011513460.1:c.1498C>A	XP_011511762.1:p.Pro500Thr
XM_011513461.1:c.1432C>A	XP_011511763.1:p.Pro478Thr
XM_011513462.1:c.1351C>A	XP_011511764.1:p.Pro451Thr
XM_011513463.1:c.1351C>A	XP_011511765.1:p.Pro451Thr
XR_924947.1:n.1895C>A
NM_000203.5:c.1639C>A MANE Select	NP_000194.2:p.Pro547Thr
NM_001363576.1:c.1243C>A	NP_001350505.1:p.Pro415Thr
XM_011513461.2:c.1432C>A	XP_011511763.1:p.Pro478Thr
XM_017008163.1:c.679C>A	XP_016863652.1:p.Pro227Thr