Canonical Allele Identifier: CA355963004

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996085T>A (hg19) ; chr4:g.1002297T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002297T>A , CM000666.2:g.1002297T>A	GRCh38
NC_000004.11:g.996085T>A , CM000666.1:g.996085T>A	GRCh37
NC_000004.10:g.986085T>A	NCBI36
NG_008103.1:g.20301T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1001T>A	ENSP00000247933.4:p.Leu334Gln
ENST00000514224.2:c.1001T>A MANE Select	ENSP00000425081.2:p.Leu334Gln
ENST00000652070.1:n.1057T>A
ENST00000247933.8:c.1001T>A	ENSP00000247933.4:p.Leu334Gln
ENST00000514224.1:c.605T>A	ENSP00000425081.1:p.Leu202Gln
ENST00000514698.5:n.1108T>A
NM_000203.4:c.1001T>A	NP_000194.2:p.Leu334Gln
NR_110313.1:n.1089T>A
XM_006713882.2:c.605T>A	XP_006713945.1:p.Leu202Gln
XM_011513459.1:c.1067T>A	XP_011511761.1:p.Leu356Gln
XM_011513460.1:c.860T>A	XP_011511762.1:p.Leu287Gln
XM_011513461.1:c.794T>A	XP_011511763.1:p.Leu265Gln
XM_011513462.1:c.713T>A	XP_011511764.1:p.Leu238Gln
XM_011513463.1:c.713T>A	XP_011511765.1:p.Leu238Gln
XR_924947.1:n.1070T>A
NM_000203.5:c.1001T>A MANE Select	NP_000194.2:p.Leu334Gln
NM_001363576.1:c.605T>A	NP_001350505.1:p.Leu202Gln
XM_011513461.2:c.794T>A	XP_011511763.1:p.Leu265Gln
XM_017008163.1:c.41T>A	XP_016863652.1:p.Leu14Gln