Canonical Allele Identifier: CA355961785

Gene: IDUA

Linked Data

• COSMIC: COSM735215 ; COSM1647734
• MyVariant Identifiers: chr4:g.995327G>C (hg19) ; chr4:g.1001539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001539G>C , CM000666.2:g.1001539G>C	GRCh38
NC_000004.11:g.995327G>C , CM000666.1:g.995327G>C	GRCh37
NC_000004.10:g.985327G>C	NCBI36
NG_008103.1:g.19543G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.565G>C	ENSP00000247933.4:p.Asp189His
ENST00000514224.2:c.565G>C MANE Select	ENSP00000425081.2:p.Asp189His
ENST00000652070.1:n.621G>C
ENST00000247933.8:c.565G>C	ENSP00000247933.4:p.Asp189His
ENST00000502910.5:c.424G>C	ENSP00000422952.1:p.Asp142His
ENST00000504568.5:c.525G>C
ENST00000509948.5:c.358G>C	ENSP00000424227.1:p.Asp120His
ENST00000514192.5:c.382G>C	ENSP00000423685.1:p.Asp128His
ENST00000514224.1:c.169G>C	ENSP00000425081.1:p.Asp57His
ENST00000514698.5:n.465G>C
NM_000203.4:c.565G>C	NP_000194.2:p.Asp189His
NR_110313.1:n.653G>C
XM_006713882.2:c.169G>C	XP_006713945.1:p.Asp57His
XM_011513459.1:c.424G>C	XP_011511761.1:p.Asp142His
XM_011513460.1:c.424G>C	XP_011511762.1:p.Asp142His
XM_011513461.1:c.358G>C	XP_011511763.1:p.Asp120His
XM_011513462.1:c.277G>C	XP_011511764.1:p.Asp93His
XM_011513463.1:c.277G>C	XP_011511765.1:p.Asp93His
XR_924947.1:n.634G>C
NM_000203.5:c.565G>C MANE Select	NP_000194.2:p.Asp189His
NM_001363576.1:c.169G>C	NP_001350505.1:p.Asp57His
XM_011513461.2:c.358G>C	XP_011511763.1:p.Asp120His
XM_017008163.1:c.-424G>C	XP_016863652.1:n.-424G>C