Canonical Allele Identifier: CA355965216

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997376C>G (hg19) ; chr4:g.1003588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003588C>G , CM000666.2:g.1003588C>G	GRCh38
NC_000004.11:g.997376C>G , CM000666.1:g.997376C>G	GRCh37
NC_000004.10:g.987376C>G	NCBI36
NG_008103.1:g.21592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1690C>G	ENSP00000247933.4:p.Leu564Val
ENST00000514224.2:c.1690C>G MANE Select	ENSP00000425081.2:p.Leu564Val
ENST00000652070.1:n.1746C>G
ENST00000247933.8:c.1690C>G	ENSP00000247933.4:p.Leu564Val
ENST00000514224.1:c.1294C>G	ENSP00000425081.1:p.Leu432Val
ENST00000514417.1:n.82C>G
ENST00000514698.5:n.1797C>G
NM_000203.4:c.1690C>G	NP_000194.2:p.Leu564Val
NR_110313.1:n.1778C>G
XM_006713882.2:c.1294C>G	XP_006713945.1:p.Leu432Val
XM_011513459.1:c.1756C>G	XP_011511761.1:p.Leu586Val
XM_011513460.1:c.1549C>G	XP_011511762.1:p.Leu517Val
XM_011513461.1:c.1483C>G	XP_011511763.1:p.Leu495Val
XM_011513462.1:c.1402C>G	XP_011511764.1:p.Leu468Val
XM_011513463.1:c.1402C>G	XP_011511765.1:p.Leu468Val
XR_924947.1:n.1946C>G
NM_000203.5:c.1690C>G MANE Select	NP_000194.2:p.Leu564Val
NM_001363576.1:c.1294C>G	NP_001350505.1:p.Leu432Val
XM_011513461.2:c.1483C>G	XP_011511763.1:p.Leu495Val
XM_017008163.1:c.730C>G	XP_016863652.1:p.Leu244Val