Canonical Allele Identifier: CA355964996

Gene: IDUA

Linked Data

• dbSNP Id: rs781136336
• gnomAD v3: 4-1003397-T-G
• gnomAD v4: 4-1003397-T-G
• MyVariant Identifiers: chr4:g.997185T>G (hg19) ; chr4:g.1003397T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003397T>G , CM000666.2:g.1003397T>G	GRCh38
NC_000004.11:g.997185T>G , CM000666.1:g.997185T>G	GRCh37
NC_000004.10:g.987185T>G	NCBI36
NG_008103.1:g.21401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1577T>G	ENSP00000247933.4:p.Leu526Arg
ENST00000514224.2:c.1577T>G MANE Select	ENSP00000425081.2:p.Leu526Arg
ENST00000652070.1:n.1633T>G
ENST00000247933.8:c.1577T>G	ENSP00000247933.4:p.Leu526Arg
ENST00000514224.1:c.1181T>G	ENSP00000425081.1:p.Leu394Arg
ENST00000514698.5:n.1684T>G
NM_000203.4:c.1577T>G	NP_000194.2:p.Leu526Arg
NR_110313.1:n.1665T>G
XM_006713882.2:c.1181T>G	XP_006713945.1:p.Leu394Arg
XM_011513459.1:c.1643T>G	XP_011511761.1:p.Leu548Arg
XM_011513460.1:c.1436T>G	XP_011511762.1:p.Leu479Arg
XM_011513461.1:c.1370T>G	XP_011511763.1:p.Leu457Arg
XM_011513462.1:c.1289T>G	XP_011511764.1:p.Leu430Arg
XM_011513463.1:c.1289T>G	XP_011511765.1:p.Leu430Arg
XR_924947.1:n.1833T>G
NM_000203.5:c.1577T>G MANE Select	NP_000194.2:p.Leu526Arg
NM_001363576.1:c.1181T>G	NP_001350505.1:p.Leu394Arg
XM_011513461.2:c.1370T>G	XP_011511763.1:p.Leu457Arg
XM_017008163.1:c.617T>G	XP_016863652.1:p.Leu206Arg