Canonical Allele Identifier: CA355965043

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997214T>G (hg19) ; chr4:g.1003426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003426T>G , CM000666.2:g.1003426T>G	GRCh38
NC_000004.11:g.997214T>G , CM000666.1:g.997214T>G	GRCh37
NC_000004.10:g.987214T>G	NCBI36
NG_008103.1:g.21430T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1606T>G	ENSP00000247933.4:p.Leu536Val
ENST00000514224.2:c.1606T>G MANE Select	ENSP00000425081.2:p.Leu536Val
ENST00000652070.1:n.1662T>G
ENST00000247933.8:c.1606T>G	ENSP00000247933.4:p.Leu536Val
ENST00000514224.1:c.1210T>G	ENSP00000425081.1:p.Leu404Val
ENST00000514698.5:n.1713T>G
NM_000203.4:c.1606T>G	NP_000194.2:p.Leu536Val
NR_110313.1:n.1694T>G
XM_006713882.2:c.1210T>G	XP_006713945.1:p.Leu404Val
XM_011513459.1:c.1672T>G	XP_011511761.1:p.Leu558Val
XM_011513460.1:c.1465T>G	XP_011511762.1:p.Leu489Val
XM_011513461.1:c.1399T>G	XP_011511763.1:p.Leu467Val
XM_011513462.1:c.1318T>G	XP_011511764.1:p.Leu440Val
XM_011513463.1:c.1318T>G	XP_011511765.1:p.Leu440Val
XR_924947.1:n.1862T>G
NM_000203.5:c.1606T>G MANE Select	NP_000194.2:p.Leu536Val
NM_001363576.1:c.1210T>G	NP_001350505.1:p.Leu404Val
XM_011513461.2:c.1399T>G	XP_011511763.1:p.Leu467Val
XM_017008163.1:c.646T>G	XP_016863652.1:p.Leu216Val