Canonical Allele Identifier: CA256126

Gene: IDUA

Linked Data

• ClinVar Variation Id: 11925
• ClinVar RCV Id: RCV000012700 ; RCV000588505 ; RCV000984188 ; RCV003488337
• dbSNP Id: rs121965032
• gnomAD v4: 4-1002387-C-T
• MyVariant Identifiers: chr4:g.996175C>T (hg19) ; chr4:g.1002387C>T (hg38)
• PubMed: PMID:9391892 ; PMID:10466419 ; PMID:15521993 ; PMID:15862278 ; PMID:21734815

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002387C>T , CM000666.2:g.1002387C>T	GRCh38
NC_000004.11:g.996175C>T , CM000666.1:g.996175C>T	GRCh37
NC_000004.10:g.986175C>T	NCBI36
NG_008103.1:g.20391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1091C>T	ENSP00000247933.4:p.Thr364Met
ENST00000514224.2:c.1091C>T MANE Select	ENSP00000425081.2:p.Thr364Met
ENST00000652070.1:n.1147C>T
ENST00000247933.8:c.1091C>T	ENSP00000247933.4:p.Thr364Met
ENST00000514224.1:c.695C>T	ENSP00000425081.1:p.Thr232Met
ENST00000514698.5:n.1198C>T
NM_000203.4:c.1091C>T	NP_000194.2:p.Thr364Met
NR_110313.1:n.1179C>T
XM_006713882.2:c.695C>T	XP_006713945.1:p.Thr232Met
XM_011513459.1:c.1157C>T	XP_011511761.1:p.Thr386Met
XM_011513460.1:c.950C>T	XP_011511762.1:p.Thr317Met
XM_011513461.1:c.884C>T	XP_011511763.1:p.Thr295Met
XM_011513462.1:c.803C>T	XP_011511764.1:p.Thr268Met
XM_011513463.1:c.803C>T	XP_011511765.1:p.Thr268Met
XR_924947.1:n.1160C>T
NM_000203.5:c.1091C>T MANE Select	NP_000194.2:p.Thr364Met
NM_001363576.1:c.695C>T	NP_001350505.1:p.Thr232Met
XM_011513461.2:c.884C>T	XP_011511763.1:p.Thr295Met
XM_017008163.1:c.131C>T	XP_016863652.1:p.Thr44Met