Canonical Allele Identifier: CA355965178

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1504395
• ClinVar RCV Id: RCV002028763
• dbSNP Id: rs2153023010
• MyVariant Identifiers: chr4:g.997356T>A (hg19) ; chr4:g.1003568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003568T>A , CM000666.2:g.1003568T>A	GRCh38
NC_000004.11:g.997356T>A , CM000666.1:g.997356T>A	GRCh37
NC_000004.10:g.987356T>A	NCBI36
NG_008103.1:g.21572T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1670T>A	ENSP00000247933.4:p.Leu557Gln
ENST00000514224.2:c.1670T>A MANE Select	ENSP00000425081.2:p.Leu557Gln
ENST00000652070.1:n.1726T>A
ENST00000247933.8:c.1670T>A	ENSP00000247933.4:p.Leu557Gln
ENST00000514224.1:c.1274T>A	ENSP00000425081.1:p.Leu425Gln
ENST00000514417.1:n.62T>A
ENST00000514698.5:n.1777T>A
NM_000203.4:c.1670T>A	NP_000194.2:p.Leu557Gln
NR_110313.1:n.1758T>A
XM_006713882.2:c.1274T>A	XP_006713945.1:p.Leu425Gln
XM_011513459.1:c.1736T>A	XP_011511761.1:p.Leu579Gln
XM_011513460.1:c.1529T>A	XP_011511762.1:p.Leu510Gln
XM_011513461.1:c.1463T>A	XP_011511763.1:p.Leu488Gln
XM_011513462.1:c.1382T>A	XP_011511764.1:p.Leu461Gln
XM_011513463.1:c.1382T>A	XP_011511765.1:p.Leu461Gln
XR_924947.1:n.1926T>A
NM_000203.5:c.1670T>A MANE Select	NP_000194.2:p.Leu557Gln
NM_001363576.1:c.1274T>A	NP_001350505.1:p.Leu425Gln
XM_011513461.2:c.1463T>A	XP_011511763.1:p.Leu488Gln
XM_017008163.1:c.710T>A	XP_016863652.1:p.Leu237Gln