Canonical Allele Identifier: CA355962431

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995838C>A (hg19) ; chr4:g.1002050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002050C>A , CM000666.2:g.1002050C>A	GRCh38
NC_000004.11:g.995838C>A , CM000666.1:g.995838C>A	GRCh37
NC_000004.10:g.985838C>A	NCBI36
NG_008103.1:g.20054C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.861C>A	ENSP00000247933.4:p.Phe287Leu
ENST00000514224.2:c.861C>A MANE Select	ENSP00000425081.2:p.Phe287Leu
ENST00000652070.1:n.917C>A
ENST00000247933.8:c.861C>A	ENSP00000247933.4:p.Phe287Leu
ENST00000514192.5:c.678C>A	ENSP00000423685.1:p.Phe226Leu
ENST00000514224.1:c.465C>A	ENSP00000425081.1:p.Phe155Leu
ENST00000514698.5:n.861C>A
NM_000203.4:c.861C>A	NP_000194.2:p.Phe287Leu
NR_110313.1:n.949C>A
XM_006713882.2:c.465C>A	XP_006713945.1:p.Phe155Leu
XM_011513459.1:c.820C>A	XP_011511761.1:p.Pro274Thr
XM_011513460.1:c.720C>A	XP_011511762.1:p.Phe240Leu
XM_011513461.1:c.654C>A	XP_011511763.1:p.Phe218Leu
XM_011513462.1:c.573C>A	XP_011511764.1:p.Phe191Leu
XM_011513463.1:c.573C>A	XP_011511765.1:p.Phe191Leu
XR_924947.1:n.930C>A
NM_000203.5:c.861C>A MANE Select	NP_000194.2:p.Phe287Leu
NM_001363576.1:c.465C>A	NP_001350505.1:p.Phe155Leu
XM_011513461.2:c.654C>A	XP_011511763.1:p.Phe218Leu
XM_017008163.1:c.-100C>A	XP_016863652.1:n.-100C>A