Canonical Allele Identifier: CA355962371

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995809G>T (hg19) ; chr4:g.1002021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002021G>T , CM000666.2:g.1002021G>T	GRCh38
NC_000004.11:g.995809G>T , CM000666.1:g.995809G>T	GRCh37
NC_000004.10:g.985809G>T	NCBI36
NG_008103.1:g.20025G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.832G>T	ENSP00000247933.4:p.Val278Phe
ENST00000514224.2:c.832G>T MANE Select	ENSP00000425081.2:p.Val278Phe
ENST00000652070.1:n.888G>T
ENST00000247933.8:c.832G>T	ENSP00000247933.4:p.Val278Phe
ENST00000514192.5:c.649G>T	ENSP00000423685.1:p.Val217Phe
ENST00000514224.1:c.436G>T	ENSP00000425081.1:p.Val146Phe
ENST00000514698.5:n.832G>T
NM_000203.4:c.832G>T	NP_000194.2:p.Val278Phe
NR_110313.1:n.920G>T
XM_006713882.2:c.436G>T	XP_006713945.1:p.Val146Phe
XM_011513459.1:c.791G>T	XP_011511761.1:p.Gly264Val
XM_011513460.1:c.691G>T	XP_011511762.1:p.Val231Phe
XM_011513461.1:c.625G>T	XP_011511763.1:p.Val209Phe
XM_011513462.1:c.544G>T	XP_011511764.1:p.Val182Phe
XM_011513463.1:c.544G>T	XP_011511765.1:p.Val182Phe
XR_924947.1:n.901G>T
NM_000203.5:c.832G>T MANE Select	NP_000194.2:p.Val278Phe
NM_001363576.1:c.436G>T	NP_001350505.1:p.Val146Phe
XM_011513461.2:c.625G>T	XP_011511763.1:p.Val209Phe
XM_017008163.1:c.-129G>T	XP_016863652.1:n.-129G>T