Canonical Allele Identifier: CA2802155

Gene: IDUA

Linked Data

• ClinVar Variation Id: 793846
• ClinVar RCV Id: RCV000977052
• dbSNP Id: rs372379342
• ExAC: 4:996065 G / T
• gnomAD v2: 4-996065-G-T
• gnomAD v3: 4-1002277-G-T
• gnomAD v4: 4-1002277-G-T
• MyVariant Identifiers: chr4:g.996065G>T (hg19) ; chr4:g.1002277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002277G>T , CM000666.2:g.1002277G>T	GRCh38
NC_000004.11:g.996065G>T , CM000666.1:g.996065G>T	GRCh37
NC_000004.10:g.986065G>T	NCBI36
NG_008103.1:g.20281G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.981G>T	ENSP00000247933.4:p.Ala327=
ENST00000514224.2:c.981G>T MANE Select	ENSP00000425081.2:p.Ala327=
ENST00000652070.1:n.1037G>T
ENST00000247933.8:c.981G>T	ENSP00000247933.4:p.Ala327=
ENST00000514224.1:c.585G>T	ENSP00000425081.1:p.Ala195=
ENST00000514698.5:n.1088G>T
NM_000203.4:c.981G>T	NP_000194.2:p.Ala327=
NR_110313.1:n.1069G>T
XM_006713882.2:c.585G>T	XP_006713945.1:p.Ala195=
XM_011513459.1:c.1047G>T	XP_011511761.1:p.Ala349=
XM_011513460.1:c.840G>T	XP_011511762.1:p.Ala280=
XM_011513461.1:c.774G>T	XP_011511763.1:p.Ala258=
XM_011513462.1:c.693G>T	XP_011511764.1:p.Ala231=
XM_011513463.1:c.693G>T	XP_011511765.1:p.Ala231=
XR_924947.1:n.1050G>T
NM_000203.5:c.981G>T MANE Select	NP_000194.2:p.Ala327=
NM_001363576.1:c.585G>T	NP_001350505.1:p.Ala195=
XM_011513461.2:c.774G>T	XP_011511763.1:p.Ala258=
XM_017008163.1:c.21G>T	XP_016863652.1:p.Ala7=