Canonical Allele Identifier: CA355965019

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003411-C-T
• COSMIC: COSM6420606 ; COSM6420607
• MyVariant Identifiers: chr4:g.997199C>T (hg19) ; chr4:g.1003411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003411C>T , CM000666.2:g.1003411C>T	GRCh38
NC_000004.11:g.997199C>T , CM000666.1:g.997199C>T	GRCh37
NC_000004.10:g.987199C>T	NCBI36
NG_008103.1:g.21415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1591C>T	ENSP00000247933.4:p.Arg531Trp
ENST00000514224.2:c.1591C>T MANE Select	ENSP00000425081.2:p.Arg531Trp
ENST00000652070.1:n.1647C>T
ENST00000247933.8:c.1591C>T	ENSP00000247933.4:p.Arg531Trp
ENST00000514224.1:c.1195C>T	ENSP00000425081.1:p.Arg399Trp
ENST00000514698.5:n.1698C>T
NM_000203.4:c.1591C>T	NP_000194.2:p.Arg531Trp
NR_110313.1:n.1679C>T
XM_006713882.2:c.1195C>T	XP_006713945.1:p.Arg399Trp
XM_011513459.1:c.1657C>T	XP_011511761.1:p.Arg553Trp
XM_011513460.1:c.1450C>T	XP_011511762.1:p.Arg484Trp
XM_011513461.1:c.1384C>T	XP_011511763.1:p.Arg462Trp
XM_011513462.1:c.1303C>T	XP_011511764.1:p.Arg435Trp
XM_011513463.1:c.1303C>T	XP_011511765.1:p.Arg435Trp
XR_924947.1:n.1847C>T
NM_000203.5:c.1591C>T MANE Select	NP_000194.2:p.Arg531Trp
NM_001363576.1:c.1195C>T	NP_001350505.1:p.Arg399Trp
XM_011513461.2:c.1384C>T	XP_011511763.1:p.Arg462Trp
XM_017008163.1:c.631C>T	XP_016863652.1:p.Arg211Trp