Canonical Allele Identifier: CA355962928

Gene: IDUA

Linked Data

• ClinVar Variation Id: 526834
• ClinVar RCV Id: RCV000631453
• dbSNP Id: rs1461992821
• MyVariant Identifiers: chr4:g.996061T>C (hg19) ; chr4:g.1002273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002273T>C , CM000666.2:g.1002273T>C	GRCh38
NC_000004.11:g.996061T>C , CM000666.1:g.996061T>C	GRCh37
NC_000004.10:g.986061T>C	NCBI36
NG_008103.1:g.20277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.977T>C	ENSP00000247933.4:p.Ile326Thr
ENST00000514224.2:c.977T>C MANE Select	ENSP00000425081.2:p.Ile326Thr
ENST00000652070.1:n.1033T>C
ENST00000247933.8:c.977T>C	ENSP00000247933.4:p.Ile326Thr
ENST00000514224.1:c.581T>C	ENSP00000425081.1:p.Ile194Thr
ENST00000514698.5:n.1084T>C
NM_000203.4:c.977T>C	NP_000194.2:p.Ile326Thr
NR_110313.1:n.1065T>C
XM_006713882.2:c.581T>C	XP_006713945.1:p.Ile194Thr
XM_011513459.1:c.1043T>C	XP_011511761.1:p.Ile348Thr
XM_011513460.1:c.836T>C	XP_011511762.1:p.Ile279Thr
XM_011513461.1:c.770T>C	XP_011511763.1:p.Ile257Thr
XM_011513462.1:c.689T>C	XP_011511764.1:p.Ile230Thr
XM_011513463.1:c.689T>C	XP_011511765.1:p.Ile230Thr
XR_924947.1:n.1046T>C
NM_000203.5:c.977T>C MANE Select	NP_000194.2:p.Ile326Thr
NM_001363576.1:c.581T>C	NP_001350505.1:p.Ile194Thr
XM_011513461.2:c.770T>C	XP_011511763.1:p.Ile257Thr
XM_017008163.1:c.17T>C	XP_016863652.1:p.Ile6Thr