Canonical Allele Identifier: CA355965071

Gene: IDUA

Linked Data

• dbSNP Id: rs1485233630
• gnomAD v2: 4-997227-T-G
• gnomAD v4: 4-1003439-T-G
• MyVariant Identifiers: chr4:g.997227T>G (hg19) ; chr4:g.1003439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003439T>G , CM000666.2:g.1003439T>G	GRCh38
NC_000004.11:g.997227T>G , CM000666.1:g.997227T>G	GRCh37
NC_000004.10:g.987227T>G	NCBI36
NG_008103.1:g.21443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1619T>G	ENSP00000247933.4:p.Val540Gly
ENST00000514224.2:c.1619T>G MANE Select	ENSP00000425081.2:p.Val540Gly
ENST00000652070.1:n.1675T>G
ENST00000247933.8:c.1619T>G	ENSP00000247933.4:p.Val540Gly
ENST00000514224.1:c.1223T>G	ENSP00000425081.1:p.Val408Gly
ENST00000514417.1:n.11T>G
ENST00000514698.5:n.1726T>G
NM_000203.4:c.1619T>G	NP_000194.2:p.Val540Gly
NR_110313.1:n.1707T>G
XM_006713882.2:c.1223T>G	XP_006713945.1:p.Val408Gly
XM_011513459.1:c.1685T>G	XP_011511761.1:p.Val562Gly
XM_011513460.1:c.1478T>G	XP_011511762.1:p.Val493Gly
XM_011513461.1:c.1412T>G	XP_011511763.1:p.Val471Gly
XM_011513462.1:c.1331T>G	XP_011511764.1:p.Val444Gly
XM_011513463.1:c.1331T>G	XP_011511765.1:p.Val444Gly
XR_924947.1:n.1875T>G
NM_000203.5:c.1619T>G MANE Select	NP_000194.2:p.Val540Gly
NM_001363576.1:c.1223T>G	NP_001350505.1:p.Val408Gly
XM_011513461.2:c.1412T>G	XP_011511763.1:p.Val471Gly
XM_017008163.1:c.659T>G	XP_016863652.1:p.Val220Gly