Canonical Allele Identifier: CA256125

Gene: IDUA

Linked Data

• ClinVar Variation Id: 11924
• ClinVar RCV Id: RCV000012699 ; RCV000666715 ; RCV003591628
• dbSNP Id: rs121965031
• MyVariant Identifiers: chr4:g.998074C>G (hg19) ; chr4:g.1004286C>G (hg38)
• PubMed: PMID:9391892

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004286C>G , CM000666.2:g.1004286C>G	GRCh38
NC_000004.11:g.998074C>G , CM000666.1:g.998074C>G	GRCh37
NC_000004.10:g.988074C>G	NCBI36
NG_008103.1:g.22290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1855C>G	ENSP00000247933.4:p.Arg619Gly
ENST00000514224.2:c.1855C>G MANE Select	ENSP00000425081.2:p.Arg619Gly
ENST00000652070.1:n.1911C>G
ENST00000247933.8:c.1855C>G	ENSP00000247933.4:p.Arg619Gly
ENST00000514224.1:c.1459C>G	ENSP00000425081.1:p.Arg487Gly
ENST00000514698.5:n.1966C>G
NM_000203.4:c.1855C>G	NP_000194.2:p.Arg619Gly
NR_110313.1:n.1947C>G
XM_006713882.2:c.1459C>G	XP_006713945.1:p.Arg487Gly
XM_011513459.1:c.1921C>G	XP_011511761.1:p.Arg641Gly
XM_011513460.1:c.1714C>G	XP_011511762.1:p.Arg572Gly
XM_011513461.1:c.1648C>G	XP_011511763.1:p.Arg550Gly
XM_011513462.1:c.1567C>G	XP_011511764.1:p.Arg523Gly
XM_011513463.1:c.1567C>G	XP_011511765.1:p.Arg523Gly
XR_924947.1:n.2115C>G
NM_000203.5:c.1855C>G MANE Select	NP_000194.2:p.Arg619Gly
NM_001363576.1:c.1459C>G	NP_001350505.1:p.Arg487Gly
XM_011513461.2:c.1648C>G	XP_011511763.1:p.Arg550Gly
XM_017008163.1:c.895C>G	XP_016863652.1:p.Arg299Gly