Canonical Allele Identifier: CA355965224

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997380T>G (hg19) ; chr4:g.1003592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003592T>G , CM000666.2:g.1003592T>G	GRCh38
NC_000004.11:g.997380T>G , CM000666.1:g.997380T>G	GRCh37
NC_000004.10:g.987380T>G	NCBI36
NG_008103.1:g.21596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1694T>G	ENSP00000247933.4:p.Val565Gly
ENST00000514224.2:c.1694T>G MANE Select	ENSP00000425081.2:p.Val565Gly
ENST00000652070.1:n.1750T>G
ENST00000247933.8:c.1694T>G	ENSP00000247933.4:p.Val565Gly
ENST00000514224.1:c.1298T>G	ENSP00000425081.1:p.Val433Gly
ENST00000514417.1:n.86T>G
ENST00000514698.5:n.1801T>G
NM_000203.4:c.1694T>G	NP_000194.2:p.Val565Gly
NR_110313.1:n.1782T>G
XM_006713882.2:c.1298T>G	XP_006713945.1:p.Val433Gly
XM_011513459.1:c.1760T>G	XP_011511761.1:p.Val587Gly
XM_011513460.1:c.1553T>G	XP_011511762.1:p.Val518Gly
XM_011513461.1:c.1487T>G	XP_011511763.1:p.Val496Gly
XM_011513462.1:c.1406T>G	XP_011511764.1:p.Val469Gly
XM_011513463.1:c.1406T>G	XP_011511765.1:p.Val469Gly
XR_924947.1:n.1950T>G
NM_000203.5:c.1694T>G MANE Select	NP_000194.2:p.Val565Gly
NM_001363576.1:c.1298T>G	NP_001350505.1:p.Val433Gly
XM_011513461.2:c.1487T>G	XP_011511763.1:p.Val496Gly
XM_017008163.1:c.734T>G	XP_016863652.1:p.Val245Gly