Canonical Allele Identifier: CA355961935

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1724627
• ClinVar RCV Id: RCV002309895
• MyVariant Identifiers: chr4:g.995494C>A (hg19) ; chr4:g.1001706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001706C>A , CM000666.2:g.1001706C>A	GRCh38
NC_000004.11:g.995494C>A , CM000666.1:g.995494C>A	GRCh37
NC_000004.10:g.985494C>A	NCBI36
NG_008103.1:g.19710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.617C>A	ENSP00000247933.4:p.Ser206Ter
ENST00000514224.2:c.617C>A MANE Select	ENSP00000425081.2:p.Ser206Ter
ENST00000652070.1:n.673C>A
ENST00000247933.8:c.617C>A	ENSP00000247933.4:p.Ser206Ter
ENST00000502910.5:c.476C>A	ENSP00000422952.1:p.Ser159Ter
ENST00000504568.5:c.577C>A
ENST00000509948.5:c.410C>A	ENSP00000424227.1:p.Ser137Ter
ENST00000514192.5:c.434C>A	ENSP00000423685.1:p.Ser145Ter
ENST00000514224.1:c.221C>A	ENSP00000425081.1:p.Ser74Ter
ENST00000514698.5:n.517C>A
NM_000203.4:c.617C>A	NP_000194.2:p.Ser206Ter
NR_110313.1:n.705C>A
XM_006713882.2:c.221C>A	XP_006713945.1:p.Ser74Ter
XM_011513459.1:c.476C>A	XP_011511761.1:p.Ser159Ter
XM_011513460.1:c.476C>A	XP_011511762.1:p.Ser159Ter
XM_011513461.1:c.410C>A	XP_011511763.1:p.Ser137Ter
XM_011513462.1:c.329C>A	XP_011511764.1:p.Ser110Ter
XM_011513463.1:c.329C>A	XP_011511765.1:p.Ser110Ter
XR_924947.1:n.686C>A
NM_000203.5:c.617C>A MANE Select	NP_000194.2:p.Ser206Ter
NM_001363576.1:c.221C>A	NP_001350505.1:p.Ser74Ter
XM_011513461.2:c.410C>A	XP_011511763.1:p.Ser137Ter
XM_017008163.1:c.-344C>A	XP_016863652.1:n.-344C>A