Canonical Allele Identifier: CA355962373

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995810T>C (hg19) ; chr4:g.1002022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002022T>C , CM000666.2:g.1002022T>C	GRCh38
NC_000004.11:g.995810T>C , CM000666.1:g.995810T>C	GRCh37
NC_000004.10:g.985810T>C	NCBI36
NG_008103.1:g.20026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.833T>C	ENSP00000247933.4:p.Val278Ala
ENST00000514224.2:c.833T>C MANE Select	ENSP00000425081.2:p.Val278Ala
ENST00000652070.1:n.889T>C
ENST00000247933.8:c.833T>C	ENSP00000247933.4:p.Val278Ala
ENST00000514192.5:c.650T>C	ENSP00000423685.1:p.Val217Ala
ENST00000514224.1:c.437T>C	ENSP00000425081.1:p.Val146Ala
ENST00000514698.5:n.833T>C
NM_000203.4:c.833T>C	NP_000194.2:p.Val278Ala
NR_110313.1:n.921T>C
XM_006713882.2:c.437T>C	XP_006713945.1:p.Val146Ala
XM_011513459.1:c.792T>C	XP_011511761.1:p.Gly264=
XM_011513460.1:c.692T>C	XP_011511762.1:p.Val231Ala
XM_011513461.1:c.626T>C	XP_011511763.1:p.Val209Ala
XM_011513462.1:c.545T>C	XP_011511764.1:p.Val182Ala
XM_011513463.1:c.545T>C	XP_011511765.1:p.Val182Ala
XR_924947.1:n.902T>C
NM_000203.5:c.833T>C MANE Select	NP_000194.2:p.Val278Ala
NM_001363576.1:c.437T>C	NP_001350505.1:p.Val146Ala
XM_011513461.2:c.626T>C	XP_011511763.1:p.Val209Ala
XM_017008163.1:c.-128T>C	XP_016863652.1:n.-128T>C