Canonical Allele Identifier: CA2739353429

Gene: ACAD8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262857C>T , CM000673.2:g.134262857C>T	GRCh38
NC_000011.9:g.134132751C>T , CM000673.1:g.134132751C>T	GRCh37
NC_000011.8:g.133637961C>T	NCBI36
NG_015842.1:g.14318C>T , LRG_448:g.14318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+235C>T MANE Select	ENSP00000281182.5:n.1195+235C>T
ENST00000281182.8:c.1195+235C>T	ENSP00000281182.4:n.1195+235C>T
ENST00000374752.6:c.814+235C>T	ENSP00000363884.4:n.814+235C>T
ENST00000524502.2:n.283C>T
ENST00000526026.5:c.*972C>T	ENSP00000431532.1:n.*972C>T
ENST00000531338.5:n.1674C>T
ENST00000533387.5:n.2254+235C>T
NM_014384.2:c.1195+235C>T , LRG_448t1:c.1195+235C>T	NP_055199.1:n.1195+235C>T
XM_005271501.2:c.1283C>T	XP_005271558.1:p.Ser428Phe
XM_011542750.1:c.1195+235C>T	XP_011541052.1:n.1195+235C>T
XR_947819.1:n.1259+235C>T
XR_947820.1:n.1882C>T
XR_947822.1:n.1089+235C>T
XR_947823.1:n.1245+235C>T
XM_005271505.4:c.*1460+235C>T	XP_005271562.1:n.*1460+235C>T
XM_011542750.3:c.1195+235C>T	XP_011541052.1:n.1195+235C>T
XM_017017542.2:c.1195+235C>T	XP_016873031.1:n.1195+235C>T
XM_017017543.2:c.1283C>T	XP_016873032.1:p.Ser428Phe
XM_017017544.2:c.*164+235C>T	XP_016873033.1:n.*164+235C>T
XM_017017545.2:c.*642C>T	XP_016873034.1:n.*642C>T
XM_017017546.2:c.901+235C>T	XP_016873035.1:n.901+235C>T
XM_017017547.2:c.901+235C>T	XP_016873036.1:n.901+235C>T
XM_017017548.2:c.*1919C>T	XP_016873037.1:n.*1919C>T
XM_017017549.2:c.*1605+235C>T	XP_016873038.1:n.*1605+235C>T
XM_024448437.1:c.*577C>T	XP_024304205.1:n.*577C>T
XM_024448438.1:c.814+235C>T	XP_024304206.1:n.814+235C>T
NM_014384.3:c.1195+235C>T MANE Select	NP_055199.1:n.1195+235C>T