Canonical Allele Identifier: CA438057218

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995501T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001713T>C , CM000666.2:g.1001713T>C	GRCh38
NC_000004.11:g.995501T>C , CM000666.1:g.995501T>C	GRCh37
NC_000004.10:g.985501T>C	NCBI36
NG_008103.1:g.19717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.624T>C	ENSP00000247933.4:p.Gly208=
ENST00000514224.2:c.624T>C MANE Select	ENSP00000425081.2:p.Gly208=
ENST00000652070.1:n.680T>C
ENST00000247933.8:c.624T>C	ENSP00000247933.4:p.Gly208=
ENST00000502910.5:c.483T>C	ENSP00000422952.1:p.Gly161=
ENST00000504568.5:c.584T>C
ENST00000509948.5:c.417T>C	ENSP00000424227.1:p.Gly139=
ENST00000514192.5:c.441T>C	ENSP00000423685.1:p.Gly147=
ENST00000514224.1:c.228T>C	ENSP00000425081.1:p.Gly76=
ENST00000514698.5:n.524T>C
NM_000203.4:c.624T>C	NP_000194.2:p.Gly208=
NR_110313.1:n.712T>C
XM_006713882.2:c.228T>C	XP_006713945.1:p.Gly76=
XM_011513459.1:c.483T>C	XP_011511761.1:p.Gly161=
XM_011513460.1:c.483T>C	XP_011511762.1:p.Gly161=
XM_011513461.1:c.417T>C	XP_011511763.1:p.Gly139=
XM_011513462.1:c.336T>C	XP_011511764.1:p.Gly112=
XM_011513463.1:c.336T>C	XP_011511765.1:p.Gly112=
XR_924947.1:n.693T>C
NM_000203.5:c.624T>C MANE Select	NP_000194.2:p.Gly208=
NM_001363576.1:c.228T>C	NP_001350505.1:p.Gly76=
XM_011513461.2:c.417T>C	XP_011511763.1:p.Gly139=
XM_017008163.1:c.-337T>C	XP_016863652.1:n.-337T>C