Canonical Allele Identifier: CA438057968

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1951011
• ClinVar RCV Id: RCV002681665
• gnomAD v4: 4-1003443-T-C
• MyVariant Identifiers: chr4:g.997231T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1623T>C	ENSP00000247933.4:p.Cys541=
ENST00000514224.2:c.1623T>C MANE Select	ENSP00000425081.2:p.Cys541=
ENST00000652070.1:n.1679T>C
ENST00000247933.8:c.1623T>C	ENSP00000247933.4:p.Cys541=
ENST00000514224.1:c.1227T>C	ENSP00000425081.1:p.Cys409=
ENST00000514417.1:n.15T>C
ENST00000514698.5:n.1730T>C
NM_000203.4:c.1623T>C	NP_000194.2:p.Cys541=
NR_110313.1:n.1711T>C
XM_006713882.2:c.1227T>C	XP_006713945.1:p.Cys409=
XM_011513459.1:c.1689T>C	XP_011511761.1:p.Cys563=
XM_011513460.1:c.1482T>C	XP_011511762.1:p.Cys494=
XM_011513461.1:c.1416T>C	XP_011511763.1:p.Cys472=
XM_011513462.1:c.1335T>C	XP_011511764.1:p.Cys445=
XM_011513463.1:c.1335T>C	XP_011511765.1:p.Cys445=
XR_924947.1:n.1879T>C
NM_000203.5:c.1623T>C MANE Select	NP_000194.2:p.Cys541=
NM_001363576.1:c.1227T>C	NP_001350505.1:p.Cys409=
XM_011513461.2:c.1416T>C	XP_011511763.1:p.Cys472=
XM_017008163.1:c.663T>C	XP_016863652.1:p.Cys221=