Canonical Allele Identifier: CA355965049

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997217C>A (hg19) ; chr4:g.1003429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003429C>A , CM000666.2:g.1003429C>A	GRCh38
NC_000004.11:g.997217C>A , CM000666.1:g.997217C>A	GRCh37
NC_000004.10:g.987217C>A	NCBI36
NG_008103.1:g.21433C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1609C>A	ENSP00000247933.4:p.Leu537Met
ENST00000514224.2:c.1609C>A MANE Select	ENSP00000425081.2:p.Leu537Met
ENST00000652070.1:n.1665C>A
ENST00000247933.8:c.1609C>A	ENSP00000247933.4:p.Leu537Met
ENST00000514224.1:c.1213C>A	ENSP00000425081.1:p.Leu405Met
ENST00000514417.1:n.1C>A
ENST00000514698.5:n.1716C>A
NM_000203.4:c.1609C>A	NP_000194.2:p.Leu537Met
NR_110313.1:n.1697C>A
XM_006713882.2:c.1213C>A	XP_006713945.1:p.Leu405Met
XM_011513459.1:c.1675C>A	XP_011511761.1:p.Leu559Met
XM_011513460.1:c.1468C>A	XP_011511762.1:p.Leu490Met
XM_011513461.1:c.1402C>A	XP_011511763.1:p.Leu468Met
XM_011513462.1:c.1321C>A	XP_011511764.1:p.Leu441Met
XM_011513463.1:c.1321C>A	XP_011511765.1:p.Leu441Met
XR_924947.1:n.1865C>A
NM_000203.5:c.1609C>A MANE Select	NP_000194.2:p.Leu537Met
NM_001363576.1:c.1213C>A	NP_001350505.1:p.Leu405Met
XM_011513461.2:c.1402C>A	XP_011511763.1:p.Leu468Met
XM_017008163.1:c.649C>A	XP_016863652.1:p.Leu217Met