Canonical Allele Identifier: CA438057469

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1088683
• ClinVar RCV Id: RCV001407220
• dbSNP Id: rs2153022186
• MyVariant Identifiers: chr4:g.995829G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002041G>C , CM000666.2:g.1002041G>C	GRCh38
NC_000004.11:g.995829G>C , CM000666.1:g.995829G>C	GRCh37
NC_000004.10:g.985829G>C	NCBI36
NG_008103.1:g.20045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.852G>C	ENSP00000247933.4:p.Arg284=
ENST00000514224.2:c.852G>C MANE Select	ENSP00000425081.2:p.Arg284=
ENST00000652070.1:n.908G>C
ENST00000247933.8:c.852G>C	ENSP00000247933.4:p.Arg284=
ENST00000514192.5:c.669G>C	ENSP00000423685.1:p.Arg223=
ENST00000514224.1:c.456G>C	ENSP00000425081.1:p.Arg152=
ENST00000514698.5:n.852G>C
NM_000203.4:c.852G>C	NP_000194.2:p.Arg284=
NR_110313.1:n.940G>C
XM_006713882.2:c.456G>C	XP_006713945.1:p.Arg152=
XM_011513459.1:c.811G>C	XP_011511761.1:p.Ala271Pro
XM_011513460.1:c.711G>C	XP_011511762.1:p.Arg237=
XM_011513461.1:c.645G>C	XP_011511763.1:p.Arg215=
XM_011513462.1:c.564G>C	XP_011511764.1:p.Arg188=
XM_011513463.1:c.564G>C	XP_011511765.1:p.Arg188=
XR_924947.1:n.921G>C
NM_000203.5:c.852G>C MANE Select	NP_000194.2:p.Arg284=
NM_001363576.1:c.456G>C	NP_001350505.1:p.Arg152=
XM_011513461.2:c.645G>C	XP_011511763.1:p.Arg215=
XM_017008163.1:c.-109G>C	XP_016863652.1:n.-109G>C