Canonical Allele Identifier: CA355965171

Gene: IDUA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1664G>C	ENSP00000247933.4:p.Arg555Pro
ENST00000514224.2:c.1664G>C MANE Select	ENSP00000425081.2:p.Arg555Pro
ENST00000652070.1:n.1720G>C
ENST00000247933.8:c.1664G>C	ENSP00000247933.4:p.Arg555Pro
ENST00000514224.1:c.1268G>C	ENSP00000425081.1:p.Arg423Pro
ENST00000514417.1:n.56G>C
ENST00000514698.5:n.1771G>C
NM_000203.4:c.1664G>C	NP_000194.2:p.Arg555Pro
NR_110313.1:n.1752G>C
XM_006713882.2:c.1268G>C	XP_006713945.1:p.Arg423Pro
XM_011513459.1:c.1730G>C	XP_011511761.1:p.Arg577Pro
XM_011513460.1:c.1523G>C	XP_011511762.1:p.Arg508Pro
XM_011513461.1:c.1457G>C	XP_011511763.1:p.Arg486Pro
XM_011513462.1:c.1376G>C	XP_011511764.1:p.Arg459Pro
XM_011513463.1:c.1376G>C	XP_011511765.1:p.Arg459Pro
XR_924947.1:n.1920G>C
NM_000203.5:c.1664G>C MANE Select	NP_000194.2:p.Arg555Pro
NM_001363576.1:c.1268G>C	NP_001350505.1:p.Arg423Pro
XM_011513461.2:c.1457G>C	XP_011511763.1:p.Arg486Pro
XM_017008163.1:c.704G>C	XP_016863652.1:p.Arg235Pro