Canonical Allele Identifier: CA355962472

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432741
• ClinVar RCV Id: RCV003131226
• gnomAD v4: 4-1002069-C-A
• MyVariant Identifiers: chr4:g.995857C>A (hg19) ; chr4:g.1002069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002069C>A , CM000666.2:g.1002069C>A	GRCh38
NC_000004.11:g.995857C>A , CM000666.1:g.995857C>A	GRCh37
NC_000004.10:g.985857C>A	NCBI36
NG_008103.1:g.20073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.880C>A	ENSP00000247933.4:p.Pro294Thr
ENST00000514224.2:c.880C>A MANE Select	ENSP00000425081.2:p.Pro294Thr
ENST00000652070.1:n.936C>A
ENST00000247933.8:c.880C>A	ENSP00000247933.4:p.Pro294Thr
ENST00000514192.5:c.697C>A
ENST00000514224.1:c.484C>A	ENSP00000425081.1:p.Pro162Thr
ENST00000514698.5:n.880C>A
NM_000203.4:c.880C>A	NP_000194.2:p.Pro294Thr
NR_110313.1:n.968C>A
XM_006713882.2:c.484C>A	XP_006713945.1:p.Pro162Thr
XM_011513459.1:c.839C>A	XP_011511761.1:p.Pro280His
XM_011513460.1:c.739C>A	XP_011511762.1:p.Pro247Thr
XM_011513461.1:c.673C>A	XP_011511763.1:p.Pro225Thr
XM_011513462.1:c.592C>A	XP_011511764.1:p.Pro198Thr
XM_011513463.1:c.592C>A	XP_011511765.1:p.Pro198Thr
XR_924947.1:n.949C>A
NM_000203.5:c.880C>A MANE Select	NP_000194.2:p.Pro294Thr
NM_001363576.1:c.484C>A	NP_001350505.1:p.Pro162Thr
XM_011513461.2:c.673C>A	XP_011511763.1:p.Pro225Thr
XM_017008163.1:c.-81C>A	XP_016863652.1:n.-81C>A