Canonical Allele Identifier: CA355965017

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432727
• ClinVar RCV Id: RCV003131218
• MyVariant Identifiers: chr4:g.997197T>G (hg19) ; chr4:g.1003409T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003409T>G , CM000666.2:g.1003409T>G	GRCh38
NC_000004.11:g.997197T>G , CM000666.1:g.997197T>G	GRCh37
NC_000004.10:g.987197T>G	NCBI36
NG_008103.1:g.21413T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1589T>G	ENSP00000247933.4:p.Leu530Arg
ENST00000514224.2:c.1589T>G MANE Select	ENSP00000425081.2:p.Leu530Arg
ENST00000652070.1:n.1645T>G
ENST00000247933.8:c.1589T>G	ENSP00000247933.4:p.Leu530Arg
ENST00000514224.1:c.1193T>G	ENSP00000425081.1:p.Leu398Arg
ENST00000514698.5:n.1696T>G
NM_000203.4:c.1589T>G	NP_000194.2:p.Leu530Arg
NR_110313.1:n.1677T>G
XM_006713882.2:c.1193T>G	XP_006713945.1:p.Leu398Arg
XM_011513459.1:c.1655T>G	XP_011511761.1:p.Leu552Arg
XM_011513460.1:c.1448T>G	XP_011511762.1:p.Leu483Arg
XM_011513461.1:c.1382T>G	XP_011511763.1:p.Leu461Arg
XM_011513462.1:c.1301T>G	XP_011511764.1:p.Leu434Arg
XM_011513463.1:c.1301T>G	XP_011511765.1:p.Leu434Arg
XR_924947.1:n.1845T>G
NM_000203.5:c.1589T>G MANE Select	NP_000194.2:p.Leu530Arg
NM_001363576.1:c.1193T>G	NP_001350505.1:p.Leu398Arg
XM_011513461.2:c.1382T>G	XP_011511763.1:p.Leu461Arg
XM_017008163.1:c.629T>G	XP_016863652.1:p.Leu210Arg