Canonical Allele Identifier: CA437918923

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995326T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001538T>C , CM000666.2:g.1001538T>C	GRCh38
NC_000004.11:g.995326T>C , CM000666.1:g.995326T>C	GRCh37
NC_000004.10:g.985326T>C	NCBI36
NG_008103.1:g.19542T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.564T>C	ENSP00000247933.4:p.Phe188=
ENST00000514224.2:c.564T>C MANE Select	ENSP00000425081.2:p.Phe188=
ENST00000652070.1:n.620T>C
ENST00000247933.8:c.564T>C	ENSP00000247933.4:p.Phe188=
ENST00000502910.5:c.423T>C	ENSP00000422952.1:p.Phe141=
ENST00000504568.5:c.524T>C
ENST00000509948.5:c.357T>C	ENSP00000424227.1:p.Phe119=
ENST00000514192.5:c.381T>C	ENSP00000423685.1:p.Phe127=
ENST00000514224.1:c.168T>C	ENSP00000425081.1:p.Phe56=
ENST00000514698.5:n.464T>C
NM_000203.4:c.564T>C	NP_000194.2:p.Phe188=
NR_110313.1:n.652T>C
XM_006713882.2:c.168T>C	XP_006713945.1:p.Phe56=
XM_011513459.1:c.423T>C	XP_011511761.1:p.Phe141=
XM_011513460.1:c.423T>C	XP_011511762.1:p.Phe141=
XM_011513461.1:c.357T>C	XP_011511763.1:p.Phe119=
XM_011513462.1:c.276T>C	XP_011511764.1:p.Phe92=
XM_011513463.1:c.276T>C	XP_011511765.1:p.Phe92=
XR_924947.1:n.633T>C
NM_000203.5:c.564T>C MANE Select	NP_000194.2:p.Phe188=
NM_001363576.1:c.168T>C	NP_001350505.1:p.Phe56=
XM_011513461.2:c.357T>C	XP_011511763.1:p.Phe119=
XM_017008163.1:c.-425T>C	XP_016863652.1:n.-425T>C