Canonical Allele Identifier: CA438057510

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995862T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002074T>C , CM000666.2:g.1002074T>C	GRCh38
NC_000004.11:g.995862T>C , CM000666.1:g.995862T>C	GRCh37
NC_000004.10:g.985862T>C	NCBI36
NG_008103.1:g.20078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.885T>C	ENSP00000247933.4:p.Ile295=
ENST00000514224.2:c.885T>C MANE Select	ENSP00000425081.2:p.Ile295=
ENST00000652070.1:n.941T>C
ENST00000247933.8:c.885T>C	ENSP00000247933.4:p.Ile295=
ENST00000514224.1:c.489T>C	ENSP00000425081.1:p.Ile163=
ENST00000514698.5:n.885T>C
NM_000203.4:c.885T>C	NP_000194.2:p.Ile295=
NR_110313.1:n.973T>C
XM_006713882.2:c.489T>C	XP_006713945.1:p.Ile163=
XM_011513459.1:c.844T>C	XP_011511761.1:p.Leu282=
XM_011513460.1:c.744T>C	XP_011511762.1:p.Ile248=
XM_011513461.1:c.678T>C	XP_011511763.1:p.Ile226=
XM_011513462.1:c.597T>C	XP_011511764.1:p.Ile199=
XM_011513463.1:c.597T>C	XP_011511765.1:p.Ile199=
XR_924947.1:n.954T>C
NM_000203.5:c.885T>C MANE Select	NP_000194.2:p.Ile295=
NM_001363576.1:c.489T>C	NP_001350505.1:p.Ile163=
XM_011513461.2:c.678T>C	XP_011511763.1:p.Ile226=
XM_017008163.1:c.-76T>C	XP_016863652.1:n.-76T>C