Canonical Allele Identifier: CA117435
Gene: ACAD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 5356
dbSNP Id: rs121908419

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262556G>A , CM000673.2:g.134262556G>A GRCh38
NC_000011.9:g.134132450G>A , CM000673.1:g.134132450G>A GRCh37
NC_000011.8:g.133637660G>A NCBI36
NG_015842.1:g.14017G>A , LRG_448:g.14017G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281182.9:c.1129G>A MANE Select ENSP00000281182.5:p.Gly377Ser
ENST00000281182.8:c.1129G>A ENSP00000281182.4:p.Gly377Ser
ENST00000374752.6:c.748G>A ENSP00000363884.4:p.Gly250Ser
ENST00000524426.5:c.*859G>A ENSP00000431310.1:n.*859G>A
ENST00000524502.2:n.129G>A
ENST00000526026.5:c.*818G>A ENSP00000431532.1:n.*818G>A
ENST00000531338.5:n.1373G>A
ENST00000533387.5:n.2188G>A
NM_014384.2:c.1129G>A , LRG_448t1:c.1129G>A NP_055199.1:p.Gly377Ser
XM_005271501.2:c.1129G>A XP_005271558.1:p.Gly377Ser
XM_011542750.1:c.1129G>A XP_011541052.1:p.Gly377Ser
XR_947819.1:n.1193G>A
XR_947820.1:n.1581G>A
XR_947821.1:n.1338G>A
XR_947822.1:n.1023G>A
XR_947823.1:n.1179G>A
XM_005271505.4:c.*1394G>A XP_005271562.1:n.*1394G>A
XM_011542750.3:c.1129G>A XP_011541052.1:p.Gly377Ser
XM_017017542.2:c.1129G>A XP_016873031.1:p.Gly377Ser
XM_017017543.2:c.1129G>A XP_016873032.1:p.Gly377Ser
XM_017017544.2:c.*98G>A XP_016873033.1:n.*98G>A
XM_017017545.2:c.*341G>A XP_016873034.1:n.*341G>A
XM_017017546.2:c.835G>A XP_016873035.1:p.Gly279Ser
XM_017017547.2:c.835G>A XP_016873036.1:p.Gly279Ser
XM_017017548.2:c.*1765G>A XP_016873037.1:n.*1765G>A
XM_017017549.2:c.*1539G>A XP_016873038.1:n.*1539G>A
XM_024448437.1:c.*276G>A XP_024304205.1:n.*276G>A
XM_024448438.1:c.748G>A XP_024304206.1:p.Gly250Ser
NM_014384.3:c.1129G>A MANE Select NP_055199.1:p.Gly377Ser