Canonical Allele Identifier: CA437918924

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2852012
• ClinVar RCV Id: RCV003755821
• MyVariant Identifiers: chr4:g.995329C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001541C>T , CM000666.2:g.1001541C>T	GRCh38
NC_000004.11:g.995329C>T , CM000666.1:g.995329C>T	GRCh37
NC_000004.10:g.985329C>T	NCBI36
NG_008103.1:g.19545C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.567C>T	ENSP00000247933.4:p.Asp189=
ENST00000514224.2:c.567C>T MANE Select	ENSP00000425081.2:p.Asp189=
ENST00000652070.1:n.623C>T
ENST00000247933.8:c.567C>T	ENSP00000247933.4:p.Asp189=
ENST00000502910.5:c.426C>T	ENSP00000422952.1:p.Asp142=
ENST00000504568.5:c.527C>T
ENST00000509948.5:c.360C>T	ENSP00000424227.1:p.Asp120=
ENST00000514192.5:c.384C>T	ENSP00000423685.1:p.Asp128=
ENST00000514224.1:c.171C>T	ENSP00000425081.1:p.Asp57=
ENST00000514698.5:n.467C>T
NM_000203.4:c.567C>T	NP_000194.2:p.Asp189=
NR_110313.1:n.655C>T
XM_006713882.2:c.171C>T	XP_006713945.1:p.Asp57=
XM_011513459.1:c.426C>T	XP_011511761.1:p.Asp142=
XM_011513460.1:c.426C>T	XP_011511762.1:p.Asp142=
XM_011513461.1:c.360C>T	XP_011511763.1:p.Asp120=
XM_011513462.1:c.279C>T	XP_011511764.1:p.Asp93=
XM_011513463.1:c.279C>T	XP_011511765.1:p.Asp93=
XR_924947.1:n.636C>T
NM_000203.5:c.567C>T MANE Select	NP_000194.2:p.Asp189=
NM_001363576.1:c.171C>T	NP_001350505.1:p.Asp57=
XM_011513461.2:c.360C>T	XP_011511763.1:p.Asp120=
XM_017008163.1:c.-422C>T	XP_016863652.1:n.-422C>T