Canonical Allele Identifier: CA477722273
Gene: ACAD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2008608
ClinVar RCV Id: RCV002828745
MyVariant Identifiers: chr11:g.134128487G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134258593G>A , CM000673.2:g.134258593G>A GRCh38
NC_000011.9:g.134128487G>A , CM000673.1:g.134128487G>A GRCh37
NC_000011.8:g.133633697G>A NCBI36
NG_015842.1:g.10054G>A , LRG_448:g.10054G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281182.9:c.459G>A MANE Select ENSP00000281182.5:p.Glu153=
ENST00000281182.8:c.459G>A ENSP00000281182.4:p.Glu153=
ENST00000374752.6:c.110-415G>A ENSP00000363884.4:n.110-415G>A
ENST00000524426.5:c.*58G>A ENSP00000431310.1:n.*58G>A
ENST00000524547.5:n.94-415G>A
ENST00000526026.5:c.*148G>A ENSP00000431532.1:n.*148G>A
ENST00000527082.5:n.313G>A
ENST00000527665.5:n.847G>A
ENST00000528325.5:n.288G>A
ENST00000530533.5:n.322G>A
ENST00000531338.5:n.315G>A
ENST00000533387.5:n.220G>A
ENST00000534240.5:n.220G>A
ENST00000534433.5:n.423-415G>A
NM_014384.2:c.459G>A , LRG_448t1:c.459G>A NP_055199.1:p.Glu153=
XM_005271501.2:c.459G>A XP_005271558.1:p.Glu153=
XM_005271505.2:c.459G>A XP_005271562.1:p.Glu153=
XM_011542750.1:c.459G>A XP_011541052.1:p.Glu153=
XR_947819.1:n.523G>A
XR_947820.1:n.523G>A
XR_947821.1:n.523G>A
XR_947822.1:n.353G>A
XR_947823.1:n.509G>A
XM_005271505.4:c.459G>A XP_005271562.1:p.Glu153=
XM_011542750.3:c.459G>A XP_011541052.1:p.Glu153=
XM_017017542.2:c.459G>A XP_016873031.1:p.Glu153=
XM_017017543.2:c.459G>A XP_016873032.1:p.Glu153=
XM_017017544.2:c.459G>A XP_016873033.1:p.Glu153=
XM_017017545.2:c.459G>A XP_016873034.1:p.Glu153=
XM_017017546.2:c.165G>A XP_016873035.1:p.Glu55=
XM_017017547.2:c.165G>A XP_016873036.1:p.Glu55=
XM_017017548.2:c.459G>A XP_016873037.1:p.Glu153=
XM_017017549.2:c.459G>A XP_016873038.1:p.Glu153=
XM_024448437.1:c.459G>A XP_024304205.1:p.Glu153=
XM_024448438.1:c.78G>A XP_024304206.1:p.Glu26=
NM_014384.3:c.459G>A MANE Select NP_055199.1:p.Glu153=