Canonical Allele Identifier: CA438058009

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996927G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003139G>C , CM000666.2:g.1003139G>C	GRCh38
NC_000004.11:g.996927G>C , CM000666.1:g.996927G>C	GRCh37
NC_000004.10:g.986927G>C	NCBI36
NG_008103.1:g.21143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1506G>C	ENSP00000247933.4:p.Arg502=
ENST00000514224.2:c.1506G>C MANE Select	ENSP00000425081.2:p.Arg502=
ENST00000652070.1:n.1562G>C
ENST00000247933.8:c.1506G>C	ENSP00000247933.4:p.Arg502=
ENST00000502829.1:n.308G>C
ENST00000514224.1:c.1110G>C	ENSP00000425081.1:p.Arg370=
ENST00000514698.5:n.1613G>C
NM_000203.4:c.1506G>C	NP_000194.2:p.Arg502=
NR_110313.1:n.1594G>C
XM_006713882.2:c.1110G>C	XP_006713945.1:p.Arg370=
XM_011513459.1:c.1572G>C	XP_011511761.1:p.Arg524=
XM_011513460.1:c.1365G>C	XP_011511762.1:p.Arg455=
XM_011513461.1:c.1299G>C	XP_011511763.1:p.Arg433=
XM_011513462.1:c.1218G>C	XP_011511764.1:p.Arg406=
XM_011513463.1:c.1218G>C	XP_011511765.1:p.Arg406=
XR_924947.1:n.1575G>C
NM_000203.5:c.1506G>C MANE Select	NP_000194.2:p.Arg502=
NM_001363576.1:c.1110G>C	NP_001350505.1:p.Arg370=
XM_011513461.2:c.1299G>C	XP_011511763.1:p.Arg433=
XM_017008163.1:c.546G>C	XP_016863652.1:p.Arg182=