Canonical Allele Identifier: CA355965128

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1310014
• ClinVar RCV Id: RCV001757082 ; RCV002538859
• dbSNP Id: rs1171379194
• gnomAD v2: 4-997254-G-T
• gnomAD v3: 4-1003466-G-T
• gnomAD v4: 4-1003466-G-T
• MyVariant Identifiers: chr4:g.997254G>T (hg19) ; chr4:g.1003466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003466G>T , CM000666.2:g.1003466G>T	GRCh38
NC_000004.11:g.997254G>T , CM000666.1:g.997254G>T	GRCh37
NC_000004.10:g.987254G>T	NCBI36
NG_008103.1:g.21470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1646G>T	ENSP00000247933.4:p.Gly549Val
ENST00000514224.2:c.1646G>T MANE Select	ENSP00000425081.2:p.Gly549Val
ENST00000652070.1:n.1702G>T
ENST00000247933.8:c.1646G>T	ENSP00000247933.4:p.Gly549Val
ENST00000514224.1:c.1250G>T	ENSP00000425081.1:p.Gly417Val
ENST00000514417.1:n.38G>T
ENST00000514698.5:n.1753G>T
NM_000203.4:c.1646G>T	NP_000194.2:p.Gly549Val
NR_110313.1:n.1734G>T
XM_006713882.2:c.1250G>T	XP_006713945.1:p.Gly417Val
XM_011513459.1:c.1712G>T	XP_011511761.1:p.Gly571Val
XM_011513460.1:c.1505G>T	XP_011511762.1:p.Gly502Val
XM_011513461.1:c.1439G>T	XP_011511763.1:p.Gly480Val
XM_011513462.1:c.1358G>T	XP_011511764.1:p.Gly453Val
XM_011513463.1:c.1358G>T	XP_011511765.1:p.Gly453Val
XR_924947.1:n.1902G>T
NM_000203.5:c.1646G>T MANE Select	NP_000194.2:p.Gly549Val
NM_001363576.1:c.1250G>T	NP_001350505.1:p.Gly417Val
XM_011513461.2:c.1439G>T	XP_011511763.1:p.Gly480Val
XM_017008163.1:c.686G>T	XP_016863652.1:p.Gly229Val