Canonical Allele Identifier: CA248659

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92627
• ClinVar RCV Id: RCV000078375 ; RCV000327434 ; RCV000418377 ; RCV000722002
• dbSNP Id: rs11934801
• ExAC: 4:996555 G / C
• gnomAD v2: 4-996555-G-C
• gnomAD v3: 4-1002767-G-C
• gnomAD v4: 4-1002767-G-C
• MyVariant Identifiers: chr4:g.996555G>C (hg19) ; chr4:g.1002767G>C (hg38)
• PubMed: PMID:8328452

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002767G>C , CM000666.2:g.1002767G>C	GRCh38
NC_000004.11:g.996555G>C , CM000666.1:g.996555G>C	GRCh37
NC_000004.10:g.986555G>C	NCBI36
NG_008103.1:g.20771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1225G>C	ENSP00000247933.4:p.Gly409Arg
ENST00000514224.2:c.1225G>C MANE Select	ENSP00000425081.2:p.Gly409Arg
ENST00000652070.1:n.1281G>C
ENST00000247933.8:c.1225G>C	ENSP00000247933.4:p.Gly409Arg
ENST00000502829.1:n.27G>C
ENST00000514224.1:c.829G>C	ENSP00000425081.1:p.Gly277Arg
ENST00000514698.5:n.1332G>C
NM_000203.4:c.1225G>C	NP_000194.2:p.Gly409Arg
NR_110313.1:n.1313G>C
XM_006713882.2:c.829G>C	XP_006713945.1:p.Gly277Arg
XM_011513459.1:c.1291G>C	XP_011511761.1:p.Gly431Arg
XM_011513460.1:c.1084G>C	XP_011511762.1:p.Gly362Arg
XM_011513461.1:c.1018G>C	XP_011511763.1:p.Gly340Arg
XM_011513462.1:c.937G>C	XP_011511764.1:p.Gly313Arg
XM_011513463.1:c.937G>C	XP_011511765.1:p.Gly313Arg
XR_924947.1:n.1294G>C
NM_000203.5:c.1225G>C MANE Select	NP_000194.2:p.Gly409Arg
NM_001363576.1:c.829G>C	NP_001350505.1:p.Gly277Arg
XM_011513461.2:c.1018G>C	XP_011511763.1:p.Gly340Arg
XM_017008163.1:c.265G>C	XP_016863652.1:p.Gly89Arg