Canonical Allele Identifier: CA355961781

Gene: IDUA

Linked Data

• dbSNP Id: rs1715074447
• MyVariant Identifiers: chr4:g.995325T>G (hg19) ; chr4:g.1001537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001537T>G , CM000666.2:g.1001537T>G	GRCh38
NC_000004.11:g.995325T>G , CM000666.1:g.995325T>G	GRCh37
NC_000004.10:g.985325T>G	NCBI36
NG_008103.1:g.19541T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.563T>G	ENSP00000247933.4:p.Phe188Cys
ENST00000514224.2:c.563T>G MANE Select	ENSP00000425081.2:p.Phe188Cys
ENST00000652070.1:n.619T>G
ENST00000247933.8:c.563T>G	ENSP00000247933.4:p.Phe188Cys
ENST00000502910.5:c.422T>G	ENSP00000422952.1:p.Phe141Cys
ENST00000504568.5:c.523T>G
ENST00000509948.5:c.356T>G	ENSP00000424227.1:p.Phe119Cys
ENST00000514192.5:c.380T>G	ENSP00000423685.1:p.Phe127Cys
ENST00000514224.1:c.167T>G	ENSP00000425081.1:p.Phe56Cys
ENST00000514698.5:n.463T>G
NM_000203.4:c.563T>G	NP_000194.2:p.Phe188Cys
NR_110313.1:n.651T>G
XM_006713882.2:c.167T>G	XP_006713945.1:p.Phe56Cys
XM_011513459.1:c.422T>G	XP_011511761.1:p.Phe141Cys
XM_011513460.1:c.422T>G	XP_011511762.1:p.Phe141Cys
XM_011513461.1:c.356T>G	XP_011511763.1:p.Phe119Cys
XM_011513462.1:c.275T>G	XP_011511764.1:p.Phe92Cys
XM_011513463.1:c.275T>G	XP_011511765.1:p.Phe92Cys
XR_924947.1:n.632T>G
NM_000203.5:c.563T>G MANE Select	NP_000194.2:p.Phe188Cys
NM_001363576.1:c.167T>G	NP_001350505.1:p.Phe56Cys
XM_011513461.2:c.356T>G	XP_011511763.1:p.Phe119Cys
XM_017008163.1:c.-426T>G	XP_016863652.1:n.-426T>G