Canonical Allele Identifier: CA438057241

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995513C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001725C>G , CM000666.2:g.1001725C>G	GRCh38
NC_000004.11:g.995513C>G , CM000666.1:g.995513C>G	GRCh37
NC_000004.10:g.985513C>G	NCBI36
NG_008103.1:g.19729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.636C>G	ENSP00000247933.4:p.Ala212=
ENST00000514224.2:c.636C>G MANE Select	ENSP00000425081.2:p.Ala212=
ENST00000652070.1:n.692C>G
ENST00000247933.8:c.636C>G	ENSP00000247933.4:p.Ala212=
ENST00000502910.5:c.495C>G	ENSP00000422952.1:p.Ala165=
ENST00000509948.5:c.429C>G	ENSP00000424227.1:p.Ala143=
ENST00000514192.5:c.453C>G	ENSP00000423685.1:p.Ala151=
ENST00000514224.1:c.240C>G	ENSP00000425081.1:p.Ala80=
ENST00000514698.5:n.536C>G
NM_000203.4:c.636C>G	NP_000194.2:p.Ala212=
NR_110313.1:n.724C>G
XM_006713882.2:c.240C>G	XP_006713945.1:p.Ala80=
XM_011513459.1:c.495C>G	XP_011511761.1:p.Ala165=
XM_011513460.1:c.495C>G	XP_011511762.1:p.Ala165=
XM_011513461.1:c.429C>G	XP_011511763.1:p.Ala143=
XM_011513462.1:c.348C>G	XP_011511764.1:p.Ala116=
XM_011513463.1:c.348C>G	XP_011511765.1:p.Ala116=
XR_924947.1:n.705C>G
NM_000203.5:c.636C>G MANE Select	NP_000194.2:p.Ala212=
NM_001363576.1:c.240C>G	NP_001350505.1:p.Ala80=
XM_011513461.2:c.429C>G	XP_011511763.1:p.Ala143=
XM_017008163.1:c.-325C>G	XP_016863652.1:n.-325C>G