Canonical Allele Identifier: CA355965172

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997350G>T (hg19) ; chr4:g.1003562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003562G>T , CM000666.2:g.1003562G>T	GRCh38
NC_000004.11:g.997350G>T , CM000666.1:g.997350G>T	GRCh37
NC_000004.10:g.987350G>T	NCBI36
NG_008103.1:g.21566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1664G>T	ENSP00000247933.4:p.Arg555Leu
ENST00000514224.2:c.1664G>T MANE Select	ENSP00000425081.2:p.Arg555Leu
ENST00000652070.1:n.1720G>T
ENST00000247933.8:c.1664G>T	ENSP00000247933.4:p.Arg555Leu
ENST00000514224.1:c.1268G>T	ENSP00000425081.1:p.Arg423Leu
ENST00000514417.1:n.56G>T
ENST00000514698.5:n.1771G>T
NM_000203.4:c.1664G>T	NP_000194.2:p.Arg555Leu
NR_110313.1:n.1752G>T
XM_006713882.2:c.1268G>T	XP_006713945.1:p.Arg423Leu
XM_011513459.1:c.1730G>T	XP_011511761.1:p.Arg577Leu
XM_011513460.1:c.1523G>T	XP_011511762.1:p.Arg508Leu
XM_011513461.1:c.1457G>T	XP_011511763.1:p.Arg486Leu
XM_011513462.1:c.1376G>T	XP_011511764.1:p.Arg459Leu
XM_011513463.1:c.1376G>T	XP_011511765.1:p.Arg459Leu
XR_924947.1:n.1920G>T
NM_000203.5:c.1664G>T MANE Select	NP_000194.2:p.Arg555Leu
NM_001363576.1:c.1268G>T	NP_001350505.1:p.Arg423Leu
XM_011513461.2:c.1457G>T	XP_011511763.1:p.Arg486Leu
XM_017008163.1:c.704G>T	XP_016863652.1:p.Arg235Leu