Canonical Allele Identifier: CA355962378

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995813T>G (hg19) ; chr4:g.1002025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002025T>G , CM000666.2:g.1002025T>G	GRCh38
NC_000004.11:g.995813T>G , CM000666.1:g.995813T>G	GRCh37
NC_000004.10:g.985813T>G	NCBI36
NG_008103.1:g.20029T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.836T>G	ENSP00000247933.4:p.Val279Gly
ENST00000514224.2:c.836T>G MANE Select	ENSP00000425081.2:p.Val279Gly
ENST00000652070.1:n.892T>G
ENST00000247933.8:c.836T>G	ENSP00000247933.4:p.Val279Gly
ENST00000514192.5:c.653T>G	ENSP00000423685.1:p.Val218Gly
ENST00000514224.1:c.440T>G	ENSP00000425081.1:p.Val147Gly
ENST00000514698.5:n.836T>G
NM_000203.4:c.836T>G	NP_000194.2:p.Val279Gly
NR_110313.1:n.924T>G
XM_006713882.2:c.440T>G	XP_006713945.1:p.Val147Gly
XM_011513459.1:c.795T>G	XP_011511761.1:p.Arg265=
XM_011513460.1:c.695T>G	XP_011511762.1:p.Val232Gly
XM_011513461.1:c.629T>G	XP_011511763.1:p.Val210Gly
XM_011513462.1:c.548T>G	XP_011511764.1:p.Val183Gly
XM_011513463.1:c.548T>G	XP_011511765.1:p.Val183Gly
XR_924947.1:n.905T>G
NM_000203.5:c.836T>G MANE Select	NP_000194.2:p.Val279Gly
NM_001363576.1:c.440T>G	NP_001350505.1:p.Val147Gly
XM_011513461.2:c.629T>G	XP_011511763.1:p.Val210Gly
XM_017008163.1:c.-125T>G	XP_016863652.1:n.-125T>G