Canonical Allele Identifier: CA355962399

Gene: IDUA

Linked Data

• dbSNP Id: rs747168143
• MyVariant Identifiers: chr4:g.995823G>C (hg19) ; chr4:g.1002035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002035G>C , CM000666.2:g.1002035G>C	GRCh38
NC_000004.11:g.995823G>C , CM000666.1:g.995823G>C	GRCh37
NC_000004.10:g.985823G>C	NCBI36
NG_008103.1:g.20039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.846G>C	ENSP00000247933.4:p.Gln282His
ENST00000514224.2:c.846G>C MANE Select	ENSP00000425081.2:p.Gln282His
ENST00000652070.1:n.902G>C
ENST00000247933.8:c.846G>C	ENSP00000247933.4:p.Gln282His
ENST00000514192.5:c.663G>C	ENSP00000423685.1:p.Gln221His
ENST00000514224.1:c.450G>C	ENSP00000425081.1:p.Gln150His
ENST00000514698.5:n.846G>C
NM_000203.4:c.846G>C	NP_000194.2:p.Gln282His
NR_110313.1:n.934G>C
XM_006713882.2:c.450G>C	XP_006713945.1:p.Gln150His
XM_011513459.1:c.805G>C	XP_011511761.1:p.Asp269His
XM_011513460.1:c.705G>C	XP_011511762.1:p.Gln235His
XM_011513461.1:c.639G>C	XP_011511763.1:p.Gln213His
XM_011513462.1:c.558G>C	XP_011511764.1:p.Gln186His
XM_011513463.1:c.558G>C	XP_011511765.1:p.Gln186His
XR_924947.1:n.915G>C
NM_000203.5:c.846G>C MANE Select	NP_000194.2:p.Gln282His
NM_001363576.1:c.450G>C	NP_001350505.1:p.Gln150His
XM_011513461.2:c.639G>C	XP_011511763.1:p.Gln213His
XM_017008163.1:c.-115G>C	XP_016863652.1:n.-115G>C