Canonical Allele Identifier: CA355965184

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997359C>G (hg19) ; chr4:g.1003571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003571C>G , CM000666.2:g.1003571C>G	GRCh38
NC_000004.11:g.997359C>G , CM000666.1:g.997359C>G	GRCh37
NC_000004.10:g.987359C>G	NCBI36
NG_008103.1:g.21575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1673C>G	ENSP00000247933.4:p.Pro558Arg
ENST00000514224.2:c.1673C>G MANE Select	ENSP00000425081.2:p.Pro558Arg
ENST00000652070.1:n.1729C>G
ENST00000247933.8:c.1673C>G	ENSP00000247933.4:p.Pro558Arg
ENST00000514224.1:c.1277C>G	ENSP00000425081.1:p.Pro426Arg
ENST00000514417.1:n.65C>G
ENST00000514698.5:n.1780C>G
NM_000203.4:c.1673C>G	NP_000194.2:p.Pro558Arg
NR_110313.1:n.1761C>G
XM_006713882.2:c.1277C>G	XP_006713945.1:p.Pro426Arg
XM_011513459.1:c.1739C>G	XP_011511761.1:p.Pro580Arg
XM_011513460.1:c.1532C>G	XP_011511762.1:p.Pro511Arg
XM_011513461.1:c.1466C>G	XP_011511763.1:p.Pro489Arg
XM_011513462.1:c.1385C>G	XP_011511764.1:p.Pro462Arg
XM_011513463.1:c.1385C>G	XP_011511765.1:p.Pro462Arg
XR_924947.1:n.1929C>G
NM_000203.5:c.1673C>G MANE Select	NP_000194.2:p.Pro558Arg
NM_001363576.1:c.1277C>G	NP_001350505.1:p.Pro426Arg
XM_011513461.2:c.1466C>G	XP_011511763.1:p.Pro489Arg
XM_017008163.1:c.713C>G	XP_016863652.1:p.Pro238Arg