Canonical Allele Identifier: CA355965166

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997347T>C (hg19) ; chr4:g.1003559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003559T>C , CM000666.2:g.1003559T>C	GRCh38
NC_000004.11:g.997347T>C , CM000666.1:g.997347T>C	GRCh37
NC_000004.10:g.987347T>C	NCBI36
NG_008103.1:g.21563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1661T>C	ENSP00000247933.4:p.Leu554Pro
ENST00000514224.2:c.1661T>C MANE Select	ENSP00000425081.2:p.Leu554Pro
ENST00000652070.1:n.1717T>C
ENST00000247933.8:c.1661T>C	ENSP00000247933.4:p.Leu554Pro
ENST00000514224.1:c.1265T>C	ENSP00000425081.1:p.Leu422Pro
ENST00000514417.1:n.53T>C
ENST00000514698.5:n.1768T>C
NM_000203.4:c.1661T>C	NP_000194.2:p.Leu554Pro
NR_110313.1:n.1749T>C
XM_006713882.2:c.1265T>C	XP_006713945.1:p.Leu422Pro
XM_011513459.1:c.1727T>C	XP_011511761.1:p.Leu576Pro
XM_011513460.1:c.1520T>C	XP_011511762.1:p.Leu507Pro
XM_011513461.1:c.1454T>C	XP_011511763.1:p.Leu485Pro
XM_011513462.1:c.1373T>C	XP_011511764.1:p.Leu458Pro
XM_011513463.1:c.1373T>C	XP_011511765.1:p.Leu458Pro
XR_924947.1:n.1917T>C
NM_000203.5:c.1661T>C MANE Select	NP_000194.2:p.Leu554Pro
NM_001363576.1:c.1265T>C	NP_001350505.1:p.Leu422Pro
XM_011513461.2:c.1454T>C	XP_011511763.1:p.Leu485Pro
XM_017008163.1:c.701T>C	XP_016863652.1:p.Leu234Pro