Canonical Allele Identifier: CA355963000

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996082T>A (hg19) ; chr4:g.1002294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002294T>A , CM000666.2:g.1002294T>A	GRCh38
NC_000004.11:g.996082T>A , CM000666.1:g.996082T>A	GRCh37
NC_000004.10:g.986082T>A	NCBI36
NG_008103.1:g.20298T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.998T>A	ENSP00000247933.4:p.Leu333Gln
ENST00000514224.2:c.998T>A MANE Select	ENSP00000425081.2:p.Leu333Gln
ENST00000652070.1:n.1054T>A
ENST00000247933.8:c.998T>A	ENSP00000247933.4:p.Leu333Gln
ENST00000514224.1:c.602T>A	ENSP00000425081.1:p.Leu201Gln
ENST00000514698.5:n.1105T>A
NM_000203.4:c.998T>A	NP_000194.2:p.Leu333Gln
NR_110313.1:n.1086T>A
XM_006713882.2:c.602T>A	XP_006713945.1:p.Leu201Gln
XM_011513459.1:c.1064T>A	XP_011511761.1:p.Leu355Gln
XM_011513460.1:c.857T>A	XP_011511762.1:p.Leu286Gln
XM_011513461.1:c.791T>A	XP_011511763.1:p.Leu264Gln
XM_011513462.1:c.710T>A	XP_011511764.1:p.Leu237Gln
XM_011513463.1:c.710T>A	XP_011511765.1:p.Leu237Gln
XR_924947.1:n.1067T>A
NM_000203.5:c.998T>A MANE Select	NP_000194.2:p.Leu333Gln
NM_001363576.1:c.602T>A	NP_001350505.1:p.Leu201Gln
XM_011513461.2:c.791T>A	XP_011511763.1:p.Leu264Gln
XM_017008163.1:c.38T>A	XP_016863652.1:p.Leu13Gln