Canonical Allele Identifier: CA355964817

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996944A>C (hg19) ; chr4:g.1003156A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003156A>C , CM000666.2:g.1003156A>C	GRCh38
NC_000004.11:g.996944A>C , CM000666.1:g.996944A>C	GRCh37
NC_000004.10:g.986944A>C	NCBI36
NG_008103.1:g.21160A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1523A>C	ENSP00000247933.4:p.Glu508Ala
ENST00000514224.2:c.1523A>C MANE Select	ENSP00000425081.2:p.Glu508Ala
ENST00000652070.1:n.1579A>C
ENST00000247933.8:c.1523A>C	ENSP00000247933.4:p.Glu508Ala
ENST00000502829.1:n.325A>C
ENST00000514224.1:c.1127A>C	ENSP00000425081.1:p.Glu376Ala
ENST00000514698.5:n.1630A>C
NM_000203.4:c.1523A>C	NP_000194.2:p.Glu508Ala
NR_110313.1:n.1611A>C
XM_006713882.2:c.1127A>C	XP_006713945.1:p.Glu376Ala
XM_011513459.1:c.1589A>C	XP_011511761.1:p.Glu530Ala
XM_011513460.1:c.1382A>C	XP_011511762.1:p.Glu461Ala
XM_011513461.1:c.1316A>C	XP_011511763.1:p.Glu439Ala
XM_011513462.1:c.1235A>C	XP_011511764.1:p.Glu412Ala
XM_011513463.1:c.1235A>C	XP_011511765.1:p.Glu412Ala
XR_924947.1:n.1592A>C
NM_000203.5:c.1523A>C MANE Select	NP_000194.2:p.Glu508Ala
NM_001363576.1:c.1127A>C	NP_001350505.1:p.Glu376Ala
XM_011513461.2:c.1316A>C	XP_011511763.1:p.Glu439Ala
XM_017008163.1:c.563A>C	XP_016863652.1:p.Glu188Ala