Canonical Allele Identifier: CA2802129

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432717
• ClinVar RCV Id: RCV003135737
• dbSNP Id: rs777732506
• ExAC: 4:995939 T / C
• gnomAD v2: 4-995939-T-C
• gnomAD v3: 4-1002151-T-C
• gnomAD v4: 4-1002151-T-C
• MyVariant Identifiers: chr4:g.995939T>C (hg19) ; chr4:g.1002151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002151T>C , CM000666.2:g.1002151T>C	GRCh38
NC_000004.11:g.995939T>C , CM000666.1:g.995939T>C	GRCh37
NC_000004.10:g.985939T>C	NCBI36
NG_008103.1:g.20155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.962T>C	ENSP00000247933.4:p.Met321Thr
ENST00000514224.2:c.962T>C MANE Select	ENSP00000425081.2:p.Met321Thr
ENST00000652070.1:n.1018T>C
ENST00000247933.8:c.962T>C	ENSP00000247933.4:p.Met321Thr
ENST00000514224.1:c.566T>C	ENSP00000425081.1:p.Met189Thr
ENST00000514698.5:n.962T>C
NM_000203.4:c.962T>C	NP_000194.2:p.Met321Thr
NR_110313.1:n.1050T>C
XM_006713882.2:c.566T>C	XP_006713945.1:p.Met189Thr
XM_011513459.1:c.921T>C	XP_011511761.1:p.His307=
XM_011513460.1:c.821T>C	XP_011511762.1:p.Met274Thr
XM_011513461.1:c.755T>C	XP_011511763.1:p.Met252Thr
XM_011513462.1:c.674T>C	XP_011511764.1:p.Met225Thr
XM_011513463.1:c.674T>C	XP_011511765.1:p.Met225Thr
XR_924947.1:n.1031T>C
NM_000203.5:c.962T>C MANE Select	NP_000194.2:p.Met321Thr
NM_001363576.1:c.566T>C	NP_001350505.1:p.Met189Thr
XM_011513461.2:c.755T>C	XP_011511763.1:p.Met252Thr
XM_017008163.1:c.2T>C	XP_016863652.1:p.Met1Thr