Canonical Allele Identifier: CA355961252

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.994668A>T (hg19) ; chr4:g.1000880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000880A>T , CM000666.2:g.1000880A>T	GRCh38
NC_000004.11:g.994668A>T , CM000666.1:g.994668A>T	GRCh37
NC_000004.10:g.984668A>T	NCBI36
NG_008103.1:g.18884A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.386-2A>T	ENSP00000247933.4:n.386-2A>T
ENST00000514224.2:c.386-2A>T MANE Select	ENSP00000425081.2:n.386-2A>T
ENST00000652070.1:n.442-2A>T
ENST00000247933.8:c.386-2A>T	ENSP00000247933.4:n.386-2A>T
ENST00000502910.5:c.245-2A>T	ENSP00000422952.1:n.245-2A>T
ENST00000504568.5:c.346-2A>T
ENST00000506561.5:n.395-2A>T
ENST00000508168.5:n.264-2A>T
ENST00000509948.5:c.179-2A>T	ENSP00000424227.1:n.179-2A>T
ENST00000514192.5:c.203-2A>T	ENSP00000423685.1:n.203-2A>T
ENST00000514224.1:c.-11-2A>T	ENSP00000425081.1:n.-11-2A>T
ENST00000514698.5:n.286-2A>T
NM_000203.4:c.386-2A>T	NP_000194.2:n.386-2A>T
NR_110313.1:n.474-2A>T
XM_006713882.2:c.-11-2A>T	XP_006713945.1:n.-11-2A>T
XM_011513459.1:c.245-2A>T	XP_011511761.1:n.245-2A>T
XM_011513460.1:c.245-2A>T	XP_011511762.1:n.245-2A>T
XM_011513461.1:c.179-2A>T	XP_011511763.1:n.179-2A>T
XM_011513462.1:c.96A>T	XP_011511764.1:p.Pro32=
XM_011513463.1:c.96A>T	XP_011511765.1:p.Pro32=
XR_924947.1:n.455-2A>T
NM_000203.5:c.386-2A>T MANE Select	NP_000194.2:n.386-2A>T
NM_001363576.1:c.-11-2A>T	NP_001350505.1:n.-11-2A>T
XM_011513461.2:c.179-2A>T	XP_011511763.1:n.179-2A>T
XM_017008163.1:c.-1081-2A>T	XP_016863652.1:n.-1081-2A>T