Canonical Allele Identifier: CA256128

Gene: IDUA

Linked Data

• ClinVar Variation Id: 11927
• ClinVar RCV Id: RCV000012702 ; RCV000012703 ; RCV001248726
• dbSNP Id: rs121965033
• ExAC: 4:996121 T / G
• gnomAD v2: 4-996121-T-G
• MyVariant Identifiers: chr4:g.996121T>G (hg19) ; chr4:g.1002333T>G (hg38)
• PubMed: PMID:10466419 ; PMID:10735634

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002333T>G , CM000666.2:g.1002333T>G	GRCh38
NC_000004.11:g.996121T>G , CM000666.1:g.996121T>G	GRCh37
NC_000004.10:g.986121T>G	NCBI36
NG_008103.1:g.20337T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1037T>G	ENSP00000247933.4:p.Leu346Arg
ENST00000514224.2:c.1037T>G MANE Select	ENSP00000425081.2:p.Leu346Arg
ENST00000652070.1:n.1093T>G
ENST00000247933.8:c.1037T>G	ENSP00000247933.4:p.Leu346Arg
ENST00000514224.1:c.641T>G	ENSP00000425081.1:p.Leu214Arg
ENST00000514698.5:n.1144T>G
NM_000203.4:c.1037T>G	NP_000194.2:p.Leu346Arg
NR_110313.1:n.1125T>G
XM_006713882.2:c.641T>G	XP_006713945.1:p.Leu214Arg
XM_011513459.1:c.1103T>G	XP_011511761.1:p.Leu368Arg
XM_011513460.1:c.896T>G	XP_011511762.1:p.Leu299Arg
XM_011513461.1:c.830T>G	XP_011511763.1:p.Leu277Arg
XM_011513462.1:c.749T>G	XP_011511764.1:p.Leu250Arg
XM_011513463.1:c.749T>G	XP_011511765.1:p.Leu250Arg
XR_924947.1:n.1106T>G
NM_000203.5:c.1037T>G MANE Select	NP_000194.2:p.Leu346Arg
NM_001363576.1:c.641T>G	NP_001350505.1:p.Leu214Arg
XM_011513461.2:c.830T>G	XP_011511763.1:p.Leu277Arg
XM_017008163.1:c.77T>G	XP_016863652.1:p.Leu26Arg