Canonical Allele Identifier: CA355961269

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.994673T>A (hg19) ; chr4:g.1000885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000885T>A , CM000666.2:g.1000885T>A	GRCh38
NC_000004.11:g.994673T>A , CM000666.1:g.994673T>A	GRCh37
NC_000004.10:g.984673T>A	NCBI36
NG_008103.1:g.18889T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.389T>A	ENSP00000247933.4:p.Phe130Tyr
ENST00000514224.2:c.389T>A MANE Select	ENSP00000425081.2:p.Phe130Tyr
ENST00000652070.1:n.445T>A
ENST00000247933.8:c.389T>A	ENSP00000247933.4:p.Phe130Tyr
ENST00000502910.5:c.248T>A	ENSP00000422952.1:p.Phe83Tyr
ENST00000504568.5:c.349T>A
ENST00000506561.5:n.398T>A
ENST00000508168.5:n.267T>A
ENST00000509948.5:c.182T>A	ENSP00000424227.1:p.Phe61Tyr
ENST00000514192.5:c.206T>A	ENSP00000423685.1:p.Phe69Tyr
ENST00000514224.1:c.-8T>A	ENSP00000425081.1:n.-8T>A
ENST00000514698.5:n.289T>A
NM_000203.4:c.389T>A	NP_000194.2:p.Phe130Tyr
NR_110313.1:n.477T>A
XM_006713882.2:c.-8T>A	XP_006713945.1:n.-8T>A
XM_011513459.1:c.248T>A	XP_011511761.1:p.Phe83Tyr
XM_011513460.1:c.248T>A	XP_011511762.1:p.Phe83Tyr
XM_011513461.1:c.182T>A	XP_011511763.1:p.Phe61Tyr
XM_011513462.1:c.101T>A	XP_011511764.1:p.Phe34Tyr
XM_011513463.1:c.101T>A	XP_011511765.1:p.Phe34Tyr
XR_924947.1:n.458T>A
NM_000203.5:c.389T>A MANE Select	NP_000194.2:p.Phe130Tyr
NM_001363576.1:c.-8T>A	NP_001350505.1:n.-8T>A
XM_011513461.2:c.182T>A	XP_011511763.1:p.Phe61Tyr
XM_017008163.1:c.-1078T>A	XP_016863652.1:n.-1078T>A