Canonical Allele Identifier: CA437918928

Gene: IDUA

Linked Data

• ClinVar Variation Id: 796384
• ClinVar RCV Id: RCV001434623
• dbSNP Id: rs1560546652
• gnomAD v4: 4-1001547-C-T
• MyVariant Identifiers: chr4:g.995335C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001547C>T , CM000666.2:g.1001547C>T	GRCh38
NC_000004.11:g.995335C>T , CM000666.1:g.995335C>T	GRCh37
NC_000004.10:g.985335C>T	NCBI36
NG_008103.1:g.19551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.573C>T	ENSP00000247933.4:p.Val191=
ENST00000514224.2:c.573C>T MANE Select	ENSP00000425081.2:p.Val191=
ENST00000652070.1:n.629C>T
ENST00000247933.8:c.573C>T	ENSP00000247933.4:p.Val191=
ENST00000502910.5:c.432C>T	ENSP00000422952.1:p.Val144=
ENST00000504568.5:c.533C>T
ENST00000509948.5:c.366C>T	ENSP00000424227.1:p.Val122=
ENST00000514192.5:c.390C>T	ENSP00000423685.1:p.Val130=
ENST00000514224.1:c.177C>T	ENSP00000425081.1:p.Val59=
ENST00000514698.5:n.473C>T
NM_000203.4:c.573C>T	NP_000194.2:p.Val191=
NR_110313.1:n.661C>T
XM_006713882.2:c.177C>T	XP_006713945.1:p.Val59=
XM_011513459.1:c.432C>T	XP_011511761.1:p.Val144=
XM_011513460.1:c.432C>T	XP_011511762.1:p.Val144=
XM_011513461.1:c.366C>T	XP_011511763.1:p.Val122=
XM_011513462.1:c.285C>T	XP_011511764.1:p.Val95=
XM_011513463.1:c.285C>T	XP_011511765.1:p.Val95=
XR_924947.1:n.642C>T
NM_000203.5:c.573C>T MANE Select	NP_000194.2:p.Val191=
NM_001363576.1:c.177C>T	NP_001350505.1:p.Val59=
XM_011513461.2:c.366C>T	XP_011511763.1:p.Val122=
XM_017008163.1:c.-416C>T	XP_016863652.1:n.-416C>T