Canonical Allele Identifier: CA355962985

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996078C>A (hg19) ; chr4:g.1002290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002290C>A , CM000666.2:g.1002290C>A	GRCh38
NC_000004.11:g.996078C>A , CM000666.1:g.996078C>A	GRCh37
NC_000004.10:g.986078C>A	NCBI36
NG_008103.1:g.20294C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.994C>A	ENSP00000247933.4:p.Leu332Met
ENST00000514224.2:c.994C>A MANE Select	ENSP00000425081.2:p.Leu332Met
ENST00000652070.1:n.1050C>A
ENST00000247933.8:c.994C>A	ENSP00000247933.4:p.Leu332Met
ENST00000514224.1:c.598C>A	ENSP00000425081.1:p.Leu200Met
ENST00000514698.5:n.1101C>A
NM_000203.4:c.994C>A	NP_000194.2:p.Leu332Met
NR_110313.1:n.1082C>A
XM_006713882.2:c.598C>A	XP_006713945.1:p.Leu200Met
XM_011513459.1:c.1060C>A	XP_011511761.1:p.Leu354Met
XM_011513460.1:c.853C>A	XP_011511762.1:p.Leu285Met
XM_011513461.1:c.787C>A	XP_011511763.1:p.Leu263Met
XM_011513462.1:c.706C>A	XP_011511764.1:p.Leu236Met
XM_011513463.1:c.706C>A	XP_011511765.1:p.Leu236Met
XR_924947.1:n.1063C>A
NM_000203.5:c.994C>A MANE Select	NP_000194.2:p.Leu332Met
NM_001363576.1:c.598C>A	NP_001350505.1:p.Leu200Met
XM_011513461.2:c.787C>A	XP_011511763.1:p.Leu263Met
XM_017008163.1:c.34C>A	XP_016863652.1:p.Leu12Met