Canonical Allele Identifier: CA355965080

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997231T>G (hg19) ; chr4:g.1003443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003443T>G , CM000666.2:g.1003443T>G	GRCh38
NC_000004.11:g.997231T>G , CM000666.1:g.997231T>G	GRCh37
NC_000004.10:g.987231T>G	NCBI36
NG_008103.1:g.21447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1623T>G	ENSP00000247933.4:p.Cys541Trp
ENST00000514224.2:c.1623T>G MANE Select	ENSP00000425081.2:p.Cys541Trp
ENST00000652070.1:n.1679T>G
ENST00000247933.8:c.1623T>G	ENSP00000247933.4:p.Cys541Trp
ENST00000514224.1:c.1227T>G	ENSP00000425081.1:p.Cys409Trp
ENST00000514417.1:n.15T>G
ENST00000514698.5:n.1730T>G
NM_000203.4:c.1623T>G	NP_000194.2:p.Cys541Trp
NR_110313.1:n.1711T>G
XM_006713882.2:c.1227T>G	XP_006713945.1:p.Cys409Trp
XM_011513459.1:c.1689T>G	XP_011511761.1:p.Cys563Trp
XM_011513460.1:c.1482T>G	XP_011511762.1:p.Cys494Trp
XM_011513461.1:c.1416T>G	XP_011511763.1:p.Cys472Trp
XM_011513462.1:c.1335T>G	XP_011511764.1:p.Cys445Trp
XM_011513463.1:c.1335T>G	XP_011511765.1:p.Cys445Trp
XR_924947.1:n.1879T>G
NM_000203.5:c.1623T>G MANE Select	NP_000194.2:p.Cys541Trp
NM_001363576.1:c.1227T>G	NP_001350505.1:p.Cys409Trp
XM_011513461.2:c.1416T>G	XP_011511763.1:p.Cys472Trp
XM_017008163.1:c.663T>G	XP_016863652.1:p.Cys221Trp