Canonical Allele Identifier: CA355965247

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997391T>G (hg19) ; chr4:g.1003603T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003603T>G , CM000666.2:g.1003603T>G	GRCh38
NC_000004.11:g.997391T>G , CM000666.1:g.997391T>G	GRCh37
NC_000004.10:g.987391T>G	NCBI36
NG_008103.1:g.21607T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1705T>G	ENSP00000247933.4:p.Ser569Ala
ENST00000514224.2:c.1705T>G MANE Select	ENSP00000425081.2:p.Ser569Ala
ENST00000652070.1:n.1761T>G
ENST00000247933.8:c.1705T>G	ENSP00000247933.4:p.Ser569Ala
ENST00000514224.1:c.1309T>G	ENSP00000425081.1:p.Ser437Ala
ENST00000514417.1:n.97T>G
ENST00000514698.5:n.1812T>G
NM_000203.4:c.1705T>G	NP_000194.2:p.Ser569Ala
NR_110313.1:n.1793T>G
XM_006713882.2:c.1309T>G	XP_006713945.1:p.Ser437Ala
XM_011513459.1:c.1771T>G	XP_011511761.1:p.Ser591Ala
XM_011513460.1:c.1564T>G	XP_011511762.1:p.Ser522Ala
XM_011513461.1:c.1498T>G	XP_011511763.1:p.Ser500Ala
XM_011513462.1:c.1417T>G	XP_011511764.1:p.Ser473Ala
XM_011513463.1:c.1417T>G	XP_011511765.1:p.Ser473Ala
XR_924947.1:n.1961T>G
NM_000203.5:c.1705T>G MANE Select	NP_000194.2:p.Ser569Ala
NM_001363576.1:c.1309T>G	NP_001350505.1:p.Ser437Ala
XM_011513461.2:c.1498T>G	XP_011511763.1:p.Ser500Ala
XM_017008163.1:c.745T>G	XP_016863652.1:p.Ser249Ala