Canonical Allele Identifier: CA355963492

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996268T>A (hg19) ; chr4:g.1002480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002480T>A , CM000666.2:g.1002480T>A	GRCh38
NC_000004.11:g.996268T>A , CM000666.1:g.996268T>A	GRCh37
NC_000004.10:g.986268T>A	NCBI36
NG_008103.1:g.20484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1184T>A	ENSP00000247933.4:p.Leu395Gln
ENST00000514224.2:c.1184T>A MANE Select	ENSP00000425081.2:p.Leu395Gln
ENST00000652070.1:n.1240T>A
ENST00000247933.8:c.1184T>A	ENSP00000247933.4:p.Leu395Gln
ENST00000514224.1:c.788T>A	ENSP00000425081.1:p.Leu263Gln
ENST00000514698.5:n.1291T>A
NM_000203.4:c.1184T>A	NP_000194.2:p.Leu395Gln
NR_110313.1:n.1272T>A
XM_006713882.2:c.788T>A	XP_006713945.1:p.Leu263Gln
XM_011513459.1:c.1250T>A	XP_011511761.1:p.Leu417Gln
XM_011513460.1:c.1043T>A	XP_011511762.1:p.Leu348Gln
XM_011513461.1:c.977T>A	XP_011511763.1:p.Leu326Gln
XM_011513462.1:c.896T>A	XP_011511764.1:p.Leu299Gln
XM_011513463.1:c.896T>A	XP_011511765.1:p.Leu299Gln
XR_924947.1:n.1253T>A
NM_000203.5:c.1184T>A MANE Select	NP_000194.2:p.Leu395Gln
NM_001363576.1:c.788T>A	NP_001350505.1:p.Leu263Gln
XM_011513461.2:c.977T>A	XP_011511763.1:p.Leu326Gln
XM_017008163.1:c.224T>A	XP_016863652.1:p.Leu75Gln