Canonical Allele Identifier: CA145872

Gene: IDUA

Linked Data

• ClinVar Variation Id: 92630
• ClinVar RCV Id: RCV000078378 ; RCV000390914 ; RCV000675611 ; RCV001543882 ; RCV001543881 ; RCV001543883
• dbSNP Id: rs73066479
• ExAC: 4:996690 G / A
• gnomAD v2: 4-996690-G-A
• gnomAD v3: 4-1002902-G-A
• gnomAD v4: 4-1002902-G-A
• MyVariant Identifiers: chr4:g.996690G>A (hg19) ; chr4:g.1002902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002902G>A , CM000666.2:g.1002902G>A	GRCh38
NC_000004.11:g.996690G>A , CM000666.1:g.996690G>A	GRCh37
NC_000004.10:g.986690G>A	NCBI36
NG_008103.1:g.20906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1360G>A	ENSP00000247933.4:p.Val454Ile
ENST00000514224.2:c.1360G>A MANE Select	ENSP00000425081.2:p.Val454Ile
ENST00000652070.1:n.1416G>A
ENST00000247933.8:c.1360G>A	ENSP00000247933.4:p.Val454Ile
ENST00000502829.1:n.162G>A
ENST00000514224.1:c.964G>A	ENSP00000425081.1:p.Val322Ile
ENST00000514698.5:n.1467G>A
NM_000203.4:c.1360G>A	NP_000194.2:p.Val454Ile
NR_110313.1:n.1448G>A
XM_006713882.2:c.964G>A	XP_006713945.1:p.Val322Ile
XM_011513459.1:c.1426G>A	XP_011511761.1:p.Val476Ile
XM_011513460.1:c.1219G>A	XP_011511762.1:p.Val407Ile
XM_011513461.1:c.1153G>A	XP_011511763.1:p.Val385Ile
XM_011513462.1:c.1072G>A	XP_011511764.1:p.Val358Ile
XM_011513463.1:c.1072G>A	XP_011511765.1:p.Val358Ile
XR_924947.1:n.1429G>A
NM_000203.5:c.1360G>A MANE Select	NP_000194.2:p.Val454Ile
NM_001363576.1:c.964G>A	NP_001350505.1:p.Val322Ile
XM_011513461.2:c.1153G>A	XP_011511763.1:p.Val385Ile
XM_017008163.1:c.400G>A	XP_016863652.1:p.Val134Ile