Canonical Allele Identifier: CA438057451

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995811C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002023C>T , CM000666.2:g.1002023C>T	GRCh38
NC_000004.11:g.995811C>T , CM000666.1:g.995811C>T	GRCh37
NC_000004.10:g.985811C>T	NCBI36
NG_008103.1:g.20027C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.834C>T	ENSP00000247933.4:p.Val278=
ENST00000514224.2:c.834C>T MANE Select	ENSP00000425081.2:p.Val278=
ENST00000652070.1:n.890C>T
ENST00000247933.8:c.834C>T	ENSP00000247933.4:p.Val278=
ENST00000514192.5:c.651C>T	ENSP00000423685.1:p.Val217=
ENST00000514224.1:c.438C>T	ENSP00000425081.1:p.Val146=
ENST00000514698.5:n.834C>T
NM_000203.4:c.834C>T	NP_000194.2:p.Val278=
NR_110313.1:n.922C>T
XM_006713882.2:c.438C>T	XP_006713945.1:p.Val146=
XM_011513459.1:c.793C>T	XP_011511761.1:p.Arg265Cys
XM_011513460.1:c.693C>T	XP_011511762.1:p.Val231=
XM_011513461.1:c.627C>T	XP_011511763.1:p.Val209=
XM_011513462.1:c.546C>T	XP_011511764.1:p.Val182=
XM_011513463.1:c.546C>T	XP_011511765.1:p.Val182=
XR_924947.1:n.903C>T
NM_000203.5:c.834C>T MANE Select	NP_000194.2:p.Val278=
NM_001363576.1:c.438C>T	NP_001350505.1:p.Val146=
XM_011513461.2:c.627C>T	XP_011511763.1:p.Val209=
XM_017008163.1:c.-127C>T	XP_016863652.1:n.-127C>T