Canonical Allele Identifier: CA355963106

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002329-C-G
• MyVariant Identifiers: chr4:g.996117C>G (hg19) ; chr4:g.1002329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002329C>G , CM000666.2:g.1002329C>G	GRCh38
NC_000004.11:g.996117C>G , CM000666.1:g.996117C>G	GRCh37
NC_000004.10:g.986117C>G	NCBI36
NG_008103.1:g.20333C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1033C>G	ENSP00000247933.4:p.Leu345Val
ENST00000514224.2:c.1033C>G MANE Select	ENSP00000425081.2:p.Leu345Val
ENST00000652070.1:n.1089C>G
ENST00000247933.8:c.1033C>G	ENSP00000247933.4:p.Leu345Val
ENST00000514224.1:c.637C>G	ENSP00000425081.1:p.Leu213Val
ENST00000514698.5:n.1140C>G
NM_000203.4:c.1033C>G	NP_000194.2:p.Leu345Val
NR_110313.1:n.1121C>G
XM_006713882.2:c.637C>G	XP_006713945.1:p.Leu213Val
XM_011513459.1:c.1099C>G	XP_011511761.1:p.Leu367Val
XM_011513460.1:c.892C>G	XP_011511762.1:p.Leu298Val
XM_011513461.1:c.826C>G	XP_011511763.1:p.Leu276Val
XM_011513462.1:c.745C>G	XP_011511764.1:p.Leu249Val
XM_011513463.1:c.745C>G	XP_011511765.1:p.Leu249Val
XR_924947.1:n.1102C>G
NM_000203.5:c.1033C>G MANE Select	NP_000194.2:p.Leu345Val
NM_001363576.1:c.637C>G	NP_001350505.1:p.Leu213Val
XM_011513461.2:c.826C>G	XP_011511763.1:p.Leu276Val
XM_017008163.1:c.73C>G	XP_016863652.1:p.Leu25Val