Canonical Allele Identifier: CA784304412

Gene: IDUA

Linked Data

• dbSNP Id: rs1437451362
• gnomAD v3: 4-1002200-T-G
• gnomAD v4: 4-1002200-T-G
• MyVariant Identifiers: chr4:g.995988T>G (hg19) ; chr4:g.1002200T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002200T>G , CM000666.2:g.1002200T>G	GRCh38
NC_000004.11:g.995988T>G , CM000666.1:g.995988T>G	GRCh37
NC_000004.10:g.985988T>G	NCBI36
NG_008103.1:g.20204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+39T>G	ENSP00000247933.4:n.972+39T>G
ENST00000514224.2:c.972+39T>G MANE Select	ENSP00000425081.2:n.972+39T>G
ENST00000652070.1:n.1028+39T>G
ENST00000247933.8:c.972+39T>G	ENSP00000247933.4:n.972+39T>G
ENST00000514224.1:c.576+39T>G	ENSP00000425081.1:n.576+39T>G
ENST00000514698.5:n.1011T>G
NM_000203.4:c.972+39T>G	NP_000194.2:n.972+39T>G
NR_110313.1:n.1060+39T>G
XM_006713882.2:c.576+39T>G	XP_006713945.1:n.576+39T>G
XM_011513459.1:c.970T>G	XP_011511761.1:p.Phe324Val
XM_011513460.1:c.831+39T>G	XP_011511762.1:n.831+39T>G
XM_011513461.1:c.765+39T>G	XP_011511763.1:n.765+39T>G
XM_011513462.1:c.684+39T>G	XP_011511764.1:n.684+39T>G
XM_011513463.1:c.684+39T>G	XP_011511765.1:n.684+39T>G
XR_924947.1:n.1041+39T>G
NM_000203.5:c.972+39T>G MANE Select	NP_000194.2:n.972+39T>G
NM_001363576.1:c.576+39T>G	NP_001350505.1:n.576+39T>G
XM_011513461.2:c.765+39T>G	XP_011511763.1:n.765+39T>G
XM_017008163.1:c.12+39T>G	XP_016863652.1:n.12+39T>G