Canonical Allele Identifier: CA355961978

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995516C>A (hg19) ; chr4:g.1001728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001728C>A , CM000666.2:g.1001728C>A	GRCh38
NC_000004.11:g.995516C>A , CM000666.1:g.995516C>A	GRCh37
NC_000004.10:g.985516C>A	NCBI36
NG_008103.1:g.19732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.639C>A	ENSP00000247933.4:p.Ser213Arg
ENST00000514224.2:c.639C>A MANE Select	ENSP00000425081.2:p.Ser213Arg
ENST00000652070.1:n.695C>A
ENST00000247933.8:c.639C>A	ENSP00000247933.4:p.Ser213Arg
ENST00000502910.5:c.498C>A	ENSP00000422952.1:p.Ser166Arg
ENST00000509948.5:c.432C>A	ENSP00000424227.1:p.Ser144Arg
ENST00000514192.5:c.456C>A	ENSP00000423685.1:p.Ser152Arg
ENST00000514224.1:c.243C>A	ENSP00000425081.1:p.Ser81Arg
ENST00000514698.5:n.539C>A
NM_000203.4:c.639C>A	NP_000194.2:p.Ser213Arg
NR_110313.1:n.727C>A
XM_006713882.2:c.243C>A	XP_006713945.1:p.Ser81Arg
XM_011513459.1:c.498C>A	XP_011511761.1:p.Ser166Arg
XM_011513460.1:c.498C>A	XP_011511762.1:p.Ser166Arg
XM_011513461.1:c.432C>A	XP_011511763.1:p.Ser144Arg
XM_011513462.1:c.351C>A	XP_011511764.1:p.Ser117Arg
XM_011513463.1:c.351C>A	XP_011511765.1:p.Ser117Arg
XR_924947.1:n.708C>A
NM_000203.5:c.639C>A MANE Select	NP_000194.2:p.Ser213Arg
NM_001363576.1:c.243C>A	NP_001350505.1:p.Ser81Arg
XM_011513461.2:c.432C>A	XP_011511763.1:p.Ser144Arg
XM_017008163.1:c.-322C>A	XP_016863652.1:n.-322C>A