Canonical Allele Identifier: CA355961778

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995324T>G (hg19) ; chr4:g.1001536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001536T>G , CM000666.2:g.1001536T>G	GRCh38
NC_000004.11:g.995324T>G , CM000666.1:g.995324T>G	GRCh37
NC_000004.10:g.985324T>G	NCBI36
NG_008103.1:g.19540T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.562T>G	ENSP00000247933.4:p.Phe188Val
ENST00000514224.2:c.562T>G MANE Select	ENSP00000425081.2:p.Phe188Val
ENST00000652070.1:n.618T>G
ENST00000247933.8:c.562T>G	ENSP00000247933.4:p.Phe188Val
ENST00000502910.5:c.421T>G	ENSP00000422952.1:p.Phe141Val
ENST00000504568.5:c.522T>G
ENST00000509948.5:c.355T>G	ENSP00000424227.1:p.Phe119Val
ENST00000514192.5:c.379T>G	ENSP00000423685.1:p.Phe127Val
ENST00000514224.1:c.166T>G	ENSP00000425081.1:p.Phe56Val
ENST00000514698.5:n.462T>G
NM_000203.4:c.562T>G	NP_000194.2:p.Phe188Val
NR_110313.1:n.650T>G
XM_006713882.2:c.166T>G	XP_006713945.1:p.Phe56Val
XM_011513459.1:c.421T>G	XP_011511761.1:p.Phe141Val
XM_011513460.1:c.421T>G	XP_011511762.1:p.Phe141Val
XM_011513461.1:c.355T>G	XP_011511763.1:p.Phe119Val
XM_011513462.1:c.274T>G	XP_011511764.1:p.Phe92Val
XM_011513463.1:c.274T>G	XP_011511765.1:p.Phe92Val
XR_924947.1:n.631T>G
NM_000203.5:c.562T>G MANE Select	NP_000194.2:p.Phe188Val
NM_001363576.1:c.166T>G	NP_001350505.1:p.Phe56Val
XM_011513461.2:c.355T>G	XP_011511763.1:p.Phe119Val
XM_017008163.1:c.-427T>G	XP_016863652.1:n.-427T>G