Canonical Allele Identifier: CA383519482
Gene: ACAD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262624T>A , CM000673.2:g.134262624T>A GRCh38
NC_000011.9:g.134132518T>A , CM000673.1:g.134132518T>A GRCh37
NC_000011.8:g.133637728T>A NCBI36
NG_015842.1:g.14085T>A , LRG_448:g.14085T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1195+2T>A MANE Select ENSP00000281182.5:n.1195+2T>A
ENST00000281182.8:c.1195+2T>A ENSP00000281182.4:n.1195+2T>A
ENST00000374752.6:c.814+2T>A ENSP00000363884.4:n.814+2T>A
ENST00000524502.2:n.195+2T>A
ENST00000526026.5:c.*884+2T>A ENSP00000431532.1:n.*884+2T>A
ENST00000531338.5:n.1441T>A
ENST00000533387.5:n.2254+2T>A
NM_014384.2:c.1195+2T>A , LRG_448t1:c.1195+2T>A NP_055199.1:n.1195+2T>A
XM_005271501.2:c.1195+2T>A XP_005271558.1:n.1195+2T>A
XM_011542750.1:c.1195+2T>A XP_011541052.1:n.1195+2T>A
XR_947819.1:n.1259+2T>A
XR_947820.1:n.1649T>A
XR_947822.1:n.1089+2T>A
XR_947823.1:n.1245+2T>A
XM_005271505.4:c.*1460+2T>A XP_005271562.1:n.*1460+2T>A
XM_011542750.3:c.1195+2T>A XP_011541052.1:n.1195+2T>A
XM_017017542.2:c.1195+2T>A XP_016873031.1:n.1195+2T>A
XM_017017543.2:c.1195+2T>A XP_016873032.1:n.1195+2T>A
XM_017017544.2:c.*164+2T>A XP_016873033.1:n.*164+2T>A
XM_017017545.2:c.*409T>A XP_016873034.1:n.*409T>A
XM_017017546.2:c.901+2T>A XP_016873035.1:n.901+2T>A
XM_017017547.2:c.901+2T>A XP_016873036.1:n.901+2T>A
XM_017017548.2:c.*1831+2T>A XP_016873037.1:n.*1831+2T>A
XM_017017549.2:c.*1605+2T>A XP_016873038.1:n.*1605+2T>A
XM_024448437.1:c.*344T>A XP_024304205.1:n.*344T>A
XM_024448438.1:c.814+2T>A XP_024304206.1:n.814+2T>A
NM_014384.3:c.1195+2T>A MANE Select NP_055199.1:n.1195+2T>A