Canonical Allele Identifier: CA355965110

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997245A>C (hg19) ; chr4:g.1003457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003457A>C , CM000666.2:g.1003457A>C	GRCh38
NC_000004.11:g.997245A>C , CM000666.1:g.997245A>C	GRCh37
NC_000004.10:g.987245A>C	NCBI36
NG_008103.1:g.21461A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1637A>C	ENSP00000247933.4:p.Lys546Thr
ENST00000514224.2:c.1637A>C MANE Select	ENSP00000425081.2:p.Lys546Thr
ENST00000652070.1:n.1693A>C
ENST00000247933.8:c.1637A>C	ENSP00000247933.4:p.Lys546Thr
ENST00000514224.1:c.1241A>C	ENSP00000425081.1:p.Lys414Thr
ENST00000514417.1:n.29A>C
ENST00000514698.5:n.1744A>C
NM_000203.4:c.1637A>C	NP_000194.2:p.Lys546Thr
NR_110313.1:n.1725A>C
XM_006713882.2:c.1241A>C	XP_006713945.1:p.Lys414Thr
XM_011513459.1:c.1703A>C	XP_011511761.1:p.Lys568Thr
XM_011513460.1:c.1496A>C	XP_011511762.1:p.Lys499Thr
XM_011513461.1:c.1430A>C	XP_011511763.1:p.Lys477Thr
XM_011513462.1:c.1349A>C	XP_011511764.1:p.Lys450Thr
XM_011513463.1:c.1349A>C	XP_011511765.1:p.Lys450Thr
XR_924947.1:n.1893A>C
NM_000203.5:c.1637A>C MANE Select	NP_000194.2:p.Lys546Thr
NM_001363576.1:c.1241A>C	NP_001350505.1:p.Lys414Thr
XM_011513461.2:c.1430A>C	XP_011511763.1:p.Lys477Thr
XM_017008163.1:c.677A>C	XP_016863652.1:p.Lys226Thr