Canonical Allele Identifier: CA355963277

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432787
• ClinVar RCV Id: RCV003133663
• dbSNP Id: rs1715144134
• MyVariant Identifiers: chr4:g.996164C>A (hg19) ; chr4:g.1002376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002376C>A , CM000666.2:g.1002376C>A	GRCh38
NC_000004.11:g.996164C>A , CM000666.1:g.996164C>A	GRCh37
NC_000004.10:g.986164C>A	NCBI36
NG_008103.1:g.20380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1080C>A	ENSP00000247933.4:p.Phe360Leu
ENST00000514224.2:c.1080C>A MANE Select	ENSP00000425081.2:p.Phe360Leu
ENST00000652070.1:n.1136C>A
ENST00000247933.8:c.1080C>A	ENSP00000247933.4:p.Phe360Leu
ENST00000514224.1:c.684C>A	ENSP00000425081.1:p.Phe228Leu
ENST00000514698.5:n.1187C>A
NM_000203.4:c.1080C>A	NP_000194.2:p.Phe360Leu
NR_110313.1:n.1168C>A
XM_006713882.2:c.684C>A	XP_006713945.1:p.Phe228Leu
XM_011513459.1:c.1146C>A	XP_011511761.1:p.Phe382Leu
XM_011513460.1:c.939C>A	XP_011511762.1:p.Phe313Leu
XM_011513461.1:c.873C>A	XP_011511763.1:p.Phe291Leu
XM_011513462.1:c.792C>A	XP_011511764.1:p.Phe264Leu
XM_011513463.1:c.792C>A	XP_011511765.1:p.Phe264Leu
XR_924947.1:n.1149C>A
NM_000203.5:c.1080C>A MANE Select	NP_000194.2:p.Phe360Leu
NM_001363576.1:c.684C>A	NP_001350505.1:p.Phe228Leu
XM_011513461.2:c.873C>A	XP_011511763.1:p.Phe291Leu
XM_017008163.1:c.120C>A	XP_016863652.1:p.Phe40Leu